esv4011101

Organism: Homo sapiens

Study:estd236 (Kurtas et al. 2018)
Variant Type:complex chromosomal rearrangement
Method Type:Oligo aCGH, PCR, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:39,075,693

Publication(s):Kurtas et al. 2018

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 90693 SVs from 138 studies. See in: genome view

Remapped(Score: Good):83,975,074-123,050,766

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
esv4011101	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	83,975,074	123,050,766	+
esv4011101	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	84,684,793	123,371,911	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Zygosity	Other Calls in this Sample and Study
essv26067116	intrachromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067104	intrachromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067112	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067107	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067123	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067110	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7
essv26067136	interchromosomal translocation	1960	Oligo aCGH, PCR, Sequencing	Manual observation, Merging, Read depth and paired-end mapping	2	Heterozygous	7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
essv26067116	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	6,793,758	6,793,758	-
essv26067104	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	6,793,759	6,793,759	-
essv26067112	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	83,975,074	83,975,074	+
essv26067107	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	83,975,175	83,975,175	+
essv26067123	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,022,714	111,022,714	+
essv26067110	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,028,785	111,028,785	+
essv26067136	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	111,028,787	111,028,787	+
essv26067116	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	123,050,765	123,050,765	+
essv26067104	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	123,050,766	123,050,766	+
essv26067136	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,906,996	132,906,996	+
essv26067123	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,907,016	132,907,016	+
essv26067110	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	132,911,293	132,911,293	+
essv26067107	Remapped	Perfect	GRCh38.p12	First Pass	NC_000015.10	Chr15	40,634,664	40,634,664	+
essv26067112	Remapped	Perfect	GRCh38.p12	First Pass	NC_000015.10	Chr15	40,634,676	40,634,676	+
essv26067116	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	6,793,991	6,793,991	-
essv26067104	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	6,793,992	6,793,992	-
essv26067112	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	84,684,793	84,684,793	+
essv26067107	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	84,684,894	84,684,894	+
essv26067123	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,343,917	111,343,917	+
essv26067110	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,349,988	111,349,988	+
essv26067136	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	111,349,990	111,349,990	+
essv26067116	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	123,371,910	123,371,910	+
essv26067104	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	123,371,911	123,371,911	+
essv26067136	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,591,756	132,591,756	+
essv26067123	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,591,776	132,591,776	+
essv26067110	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	132,596,053	132,596,053	+
essv26067107	Submitted genomic		GRCh37 (hg19)		NC_000015.9	Chr15	40,926,862	40,926,862	+
essv26067112	Submitted genomic		GRCh37 (hg19)		NC_000015.9	Chr15	40,926,874	40,926,874	+

dbVar

Database of genomic structural variation

esv4011101

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant