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dbVar

Database of genomic structural variation

esv3882710

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:9
Validation:Not tested
Clinical Assertions: No
Region Size:11,117

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: 245 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):323,368-334,484

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3882710	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	323,368	334,484
esv3882710	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	323,368	334,484

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24571768	copy number loss	HG00628	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,333
essv24571769	copy number gain	HG03837	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,356
essv24571770	copy number gain	HG03986	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,373
essv24571771	copy number gain	NA18616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,280
essv24571772	copy number gain	NA19079	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,371
essv24571773	copy number gain	NA19083	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,398
essv24571774	copy number gain	NA19431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv24571775	copy number gain	NA19439	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,084
essv24571776	copy number gain	NA19461	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,865

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24571768	Remapped	Perfect	NC_000019.10:g.323 368_334484del	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571769	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571770	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571771	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571772	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571773	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571774	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571775	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571776	Remapped	Perfect	NC_000019.10:g.323 368_334484dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	323,368	334,484
essv24571768	Submitted genomic		NC_000019.9:g.3233 68_334484del	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571769	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571770	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571771	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571772	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571773	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571774	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571775	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484
essv24571776	Submitted genomic		NC_000019.9:g.3233 68_334484dup	GRCh37 (hg19)		NC_000019.9	Chr19	323,368	334,484

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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