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dbVar

Database of genomic structural variation

esv3882557

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:96,068

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

Remapped(Score: Perfect):77,131,325-77,227,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3882557	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	77,131,325	77,227,392
esv3882557	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	74,843,281	74,939,348

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv24560444	copy number loss	NA06984	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,858
essv24560445	copy number loss	NA19035	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,981
essv24560446	copy number loss	NA19443	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,192
essv24560447	copy number gain	HG02252	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,179

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv24560444	Remapped	Perfect	NC_000018.10:g.771 31325_77227392del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,131,325	77,227,392
essv24560445	Remapped	Perfect	NC_000018.10:g.771 31325_77227392del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,131,325	77,227,392
essv24560446	Remapped	Perfect	NC_000018.10:g.771 31325_77227392del	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,131,325	77,227,392
essv24560447	Remapped	Perfect	NC_000018.10:g.771 31325_77227392dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	77,131,325	77,227,392
essv24560444	Submitted genomic		NC_000018.9:g.7484 3281_74939348del	GRCh37 (hg19)		NC_000018.9	Chr18	74,843,281	74,939,348
essv24560445	Submitted genomic		NC_000018.9:g.7484 3281_74939348del	GRCh37 (hg19)		NC_000018.9	Chr18	74,843,281	74,939,348
essv24560446	Submitted genomic		NC_000018.9:g.7484 3281_74939348del	GRCh37 (hg19)		NC_000018.9	Chr18	74,843,281	74,939,348
essv24560447	Submitted genomic		NC_000018.9:g.7484 3281_74939348dup	GRCh37 (hg19)		NC_000018.9	Chr18	74,843,281	74,939,348

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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