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dbVar

Database of genomic structural variation

esv4002916

Organism: Homo sapiens

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

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:2,481,795

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: 5830 SVs from 102 studies. See in: genome view

Remapped(Score: Perfect):184,815,258-187,297,052

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv4002916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	184,815,258	187,297,052
esv4002916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	185,679,985	188,161,779

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Other Calls in this Sample and Study
essv26058944	inversion	10001047_1_1	Sequencing	Split read and paired-end mapping	mental retardation, neurodevelopmental disorder	essv26058945, essv26058942, essv26058943

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv26058944	Remapped	Perfect	NC_000002.12:g.184 815258_187297052in v	GRCh38.p12	First Pass	NC_000002.12	Chr2	184,815,258	187,297,052
essv26058944	Submitted genomic		NC_000002.11:g.185 679985_188161779in v	GRCh37 (hg19)		NC_000002.11	Chr2	185,679,985	188,161,779

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv26058944	2	10001047_1_1	Sequencing	Sequence alignment	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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