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dbVar

Database of genomic structural variation

esv3598262

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:222,314

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 562 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):154,973,905-155,196,218

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3598262	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	154,973,905	155,196,218
esv3598262	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	154,691,694	154,914,007

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11190159	deletion	SAMN00007714	Sequencing	Read depth and paired-end mapping	Heterozygous	2,828
essv11190160	deletion	SAMN00007937	Sequencing	Read depth and paired-end mapping	Heterozygous	2,756

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11190159	Remapped	Perfect	NC_000003.12:g.154 973905_155196218de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	154,973,905	155,196,218
essv11190160	Remapped	Perfect	NC_000003.12:g.154 973905_155196218de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	154,973,905	155,196,218
essv11190159	Submitted genomic		NC_000003.11:g.154 691694_154914007de l	GRCh37 (hg19)		NC_000003.11	Chr3	154,691,694	154,914,007
essv11190160	Submitted genomic		NC_000003.11:g.154 691694_154914007de l	GRCh37 (hg19)		NC_000003.11	Chr3	154,691,694	154,914,007

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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