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dbVar

Database of genomic structural variation

esv3642893

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:4,204

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: 413 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):67,133,076-67,137,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3642893	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
esv3642893	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15917859	inversion	SAMN00006502	Sequencing	Read depth and paired-end mapping	Heterozygous	2,643
essv15917860	inversion	SAMN00006510	Sequencing	Read depth and paired-end mapping	Heterozygous	2,790
essv15917861	inversion	SAMN01036849	Sequencing	Read depth and paired-end mapping	Homozygous	2,759
essv15917862	inversion	SAMN00006540	Sequencing	Read depth and paired-end mapping	Heterozygous	2,736
essv15917863	inversion	SAMN00249831	Sequencing	Read depth and paired-end mapping	Heterozygous	2,680
essv15917864	inversion	SAMN00255150	Sequencing	Read depth and paired-end mapping	Heterozygous	2,737

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15917859	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917860	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917861	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917862	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917863	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917864	Remapped	Perfect	NC_000018.10:g.(67 133076_67133248)_( 67137279_67137451) inv	GRCh38.p12	First Pass	NC_000018.10	Chr18	67,133,162 (-86, +86)	67,137,365 (-86, +86)
essv15917859	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)
essv15917860	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)
essv15917861	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)
essv15917862	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)
essv15917863	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)
essv15917864	Submitted genomic		NC_000018.9:g.(648 00313_64800485)_(6 4804516_64804688)i nv	GRCh37 (hg19)		NC_000018.9	Chr18	64,800,399 (-86, +86)	64,804,602 (-86, +86)

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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