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dbVar

Database of genomic structural variation

esv3608442

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:15,827

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: 163 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):27,845,913-27,862,739

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3608442	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	27,846,413 (-500, +0)	27,862,239 (-0, +500)
esv3608442	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	27,814,191 (-500, +0)	27,830,017 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv12238827	deletion	SAMN00630255	Sequencing	Read depth and paired-end mapping	Heterozygous	2,870
essv12238828	copy number loss	SAMN00630255	Sequencing	Read depth and paired-end mapping	Heterozygous	2,870
essv12238829	copy number gain	SAMN00006395	Sequencing	Read depth and paired-end mapping	Heterozygous	2,553
essv12238830	copy number gain	SAMN00009151	Sequencing	Read depth and paired-end mapping	Heterozygous	2,226
essv12238831	copy number gain	SAMN00630205	Sequencing	Read depth and paired-end mapping	Heterozygous	3,075
essv12238832	copy number gain	SAMN00249936	Sequencing	Read depth and paired-end mapping	Heterozygous	2,672

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv12238827	Remapped	Perfect	NC_000006.12:g.(27 845913_27846413)_( 27862239_27862739) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413 (-500, +0)	27,862,239 (-0, +500)
essv12238828	Remapped	Perfect	NC_000006.12:g.278 46413_27862239del	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413	27,862,239
essv12238829	Remapped	Perfect	NC_000006.12:g.278 46413_27862239dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413	27,862,239
essv12238830	Remapped	Perfect	NC_000006.12:g.278 46413_27862239dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413	27,862,239
essv12238831	Remapped	Perfect	NC_000006.12:g.278 46413_27862239dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413	27,862,239
essv12238832	Remapped	Perfect	NC_000006.12:g.278 46413_27862239dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	27,846,413	27,862,239
essv12238827	Submitted genomic		NC_000006.11:g.(27 813691_27814191)_( 27830017_27830517) del	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191 (-500, +0)	27,830,017 (-0, +500)
essv12238828	Submitted genomic		NC_000006.11:g.278 14191_27830017del	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191	27,830,017
essv12238829	Submitted genomic		NC_000006.11:g.278 14191_27830017dup	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191	27,830,017
essv12238830	Submitted genomic		NC_000006.11:g.278 14191_27830017dup	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191	27,830,017
essv12238831	Submitted genomic		NC_000006.11:g.278 14191_27830017dup	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191	27,830,017
essv12238832	Submitted genomic		NC_000006.11:g.278 14191_27830017dup	GRCh37 (hg19)		NC_000006.11	Chr6	27,814,191	27,830,017

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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