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dbVar

Database of genomic structural variation

esv3856590

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:6
Validation:Not tested
Clinical Assertions: No
Region Size:316,333

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: 3947 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):11,868,665-12,185,037

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3856590	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
esv3856590	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21478867	deletion	HG01812	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403
essv21478868	deletion	HG04206	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,791
essv21478869	deletion	NA18544	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv21478870	deletion	NA18939	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,322
essv21478871	deletion	NA19222	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939
essv21478872	deletion	NA19403	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,594

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21478867	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478868	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478869	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478870	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478871	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478872	Remapped	Perfect	NC_000009.12:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478867	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478868	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478869	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478870	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478871	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)
essv21478872	Submitted genomic		NC_000009.11:g.(11 868665_11868705)_( 12184997_12185037) del	GRCh37 (hg19)		NC_000009.11	Chr9	11,868,685 (-20, +20)	12,185,017 (-20, +20)

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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