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dbVar

Database of genomic structural variation

esv4002917

Organism: Homo sapiens

Study:estd210 (Blake et al. 2014)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,821

Publication(s):Blake et al. 2014

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: 307 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):271,366-280,185

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv4002917	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_9	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	271,366	280,185
esv4002917	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_8	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	271,393	280,212
esv4002917	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	271,018	279,838
esv4002917	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	271,137	279,956
esv4002917	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,800,252	54,809,071

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv26058945	deletion	10001047_1_1	Sequencing	Split read and paired-end mapping	essv26058944, essv26058942, essv26058943

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv26058945	Remapped	Perfect	NT_187693.1:g.2713 66_280185del	GRCh38.p12	First Pass	NT_187693.1	Chr19\|NT_1 87693.1	271,366	280,185
essv26058945	Remapped	Perfect	NW_003571061.2:g.2 71393_280212del	GRCh38.p12	Second Pass	NW_003571061.2	Chr19\|NW_0 03571061.2	271,393	280,212
essv26058945	Remapped	Good	NW_003571055.2:g.2 71018_279838del	GRCh38.p12	Second Pass	NW_003571055.2	Chr19\|NW_0 03571055.2	271,018	279,838
essv26058945	Remapped	Perfect	NW_003571054.1:g.2 71137_279956del	GRCh38.p12	Second Pass	NW_003571054.1	Chr19\|NW_0 03571054.1	271,137	279,956
essv26058945	Submitted genomic		NC_000019.9:g.5480 0252_54809071del	GRCh37 (hg19)		NC_000019.9	Chr19	54,800,252	54,809,071

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv26058945	2	10001047_1_1	Sequencing	Sequence alignment	Inconclusive

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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