esv3889337

Organism: Homo sapiens

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

Variant Calls:14
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: 408 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):80,713,781-80,713,781

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889337	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
esv3889337	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	79,969,280	79,969,280

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25437126	sva insertion	HG02307	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,107
essv25437127	sva insertion	HG02817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,626
essv25437128	sva insertion	HG02971	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,790
essv25437129	sva insertion	HG02976	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25437130	sva insertion	HG03130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,940
essv25437131	sva insertion	HG03168	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,002
essv25437132	sva insertion	HG03279	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,797
essv25437133	sva insertion	HG03366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,505
essv25437134	sva insertion	HG03370	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,015
essv25437135	sva insertion	HG03518	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,618
essv25437136	sva insertion	NA18865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,199
essv25437137	sva insertion	NA19024	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,895
essv25437138	sva insertion	NA19129	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,021
essv25437139	sva insertion	NA20339	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,646

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25437126	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437127	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437128	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437129	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437130	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437131	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437132	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437133	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437134	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437135	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437136	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437137	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437138	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437139	Remapped	Perfect	NC_000023.11:g.807 13781_80713782ins1 540	GRCh38.p12	First Pass	NC_000023.11	ChrX	80,713,781	80,713,781
essv25437126	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437127	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437128	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437129	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437130	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437131	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437132	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437133	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437134	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437135	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437136	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437137	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437138	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280
essv25437139	Submitted genomic		NC_000023.10:g.799 69280_79969281ins1 540	GRCh37 (hg19)		NC_000023.10	ChrX	79,969,280	79,969,280

dbVar

Database of genomic structural variation

esv3889337

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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.