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dbVar

Database of genomic structural variation

esv3856612

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:214,527

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 2654 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):12,042,403-12,258,929

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3856612	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
esv3856612	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21479535	deletion	HG03694	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,573
essv21479536	deletion	NA18544	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv21479537	deletion	NA19222	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939
essv21479538	deletion	NA20510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,711

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21479535	Remapped	Perfect	NC_000009.12:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479536	Remapped	Perfect	NC_000009.12:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479537	Remapped	Perfect	NC_000009.12:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479538	Remapped	Perfect	NC_000009.12:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479535	Submitted genomic		NC_000009.11:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh37 (hg19)		NC_000009.11	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479536	Submitted genomic		NC_000009.11:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh37 (hg19)		NC_000009.11	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479537	Submitted genomic		NC_000009.11:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh37 (hg19)		NC_000009.11	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)
essv21479538	Submitted genomic		NC_000009.11:g.(12 042403_12043903)_( 12257429_12258929) del	GRCh37 (hg19)		NC_000009.11	Chr9	12,043,403 (-1000, +500)	12,257,929 (-500, +1000)

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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