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dbVar

Database of genomic structural variation

esv3873891

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 92 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):89,386,685-89,386,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3873891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
esv3873891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23596475	insertion	HG01870	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,133
essv23596476	insertion	NA18620	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,684
essv23596477	insertion	NA18954	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,085
essv23596478	insertion	NA18957	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,047
essv23596479	insertion	NA19468	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,327

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23596475	Remapped	Perfect	NC_000014.9:g.(893 86685_89386689)_(8 9386681_89386685)i ns467	GRCh38.p12	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
essv23596476	Remapped	Perfect	NC_000014.9:g.(893 86685_89386689)_(8 9386681_89386685)i ns467	GRCh38.p12	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
essv23596477	Remapped	Perfect	NC_000014.9:g.(893 86685_89386689)_(8 9386681_89386685)i ns467	GRCh38.p12	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
essv23596478	Remapped	Perfect	NC_000014.9:g.(893 86685_89386689)_(8 9386681_89386685)i ns467	GRCh38.p12	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
essv23596479	Remapped	Perfect	NC_000014.9:g.(893 86685_89386689)_(8 9386681_89386685)i ns467	GRCh38.p12	First Pass	NC_000014.9	Chr14	89,386,685 (-0, +4)	89,386,685 (-4, +0)
essv23596475	Submitted genomic		NC_000014.8:g.(898 53029_89853033)_(8 9853025_89853029)i ns467	GRCh37 (hg19)		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)
essv23596476	Submitted genomic		NC_000014.8:g.(898 53029_89853033)_(8 9853025_89853029)i ns467	GRCh37 (hg19)		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)
essv23596477	Submitted genomic		NC_000014.8:g.(898 53029_89853033)_(8 9853025_89853029)i ns467	GRCh37 (hg19)		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)
essv23596478	Submitted genomic		NC_000014.8:g.(898 53029_89853033)_(8 9853025_89853029)i ns467	GRCh37 (hg19)		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)
essv23596479	Submitted genomic		NC_000014.8:g.(898 53029_89853033)_(8 9853025_89853029)i ns467	GRCh37 (hg19)		NC_000014.8	Chr14	89,853,029 (-0, +4)	89,853,029 (-4, +0)

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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