esv3621336

Organism: Homo sapiens

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

Variant Calls:34
Validation:Not tested
Clinical Assertions: No
Region Size:12,976

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: 301 SVs from 59 studies. See in: genome view

Remapped(Score: Perfect):104,604,904-104,617,879

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3621336	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
esv3621336	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	107,367,185	107,380,160

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13591836	copy number loss	SAMN00255127	Sequencing	Read depth and paired-end mapping	Heterozygous	3,380
essv13591837	copy number loss	SAMN00779985	Sequencing	Read depth and paired-end mapping	Heterozygous	3,290
essv13591838	copy number loss	SAMN01036769	Sequencing	Read depth and paired-end mapping	Heterozygous	2,858
essv13591839	copy number loss	SAMN01090790	Sequencing	Read depth and paired-end mapping	Heterozygous	3,116
essv13591840	copy number loss	SAMN00001040	Sequencing	Read depth and paired-end mapping	Heterozygous	3,220
essv13591841	copy number loss	SAMN00001041	Sequencing	Read depth and paired-end mapping	Heterozygous	3,175
essv13591842	copy number loss	SAMN00001055	Sequencing	Read depth and paired-end mapping	Heterozygous	2,911
essv13591843	copy number loss	SAMN00001059	Sequencing	Read depth and paired-end mapping	Heterozygous	3,175
essv13591844	copy number loss	SAMN00001676	Sequencing	Read depth and paired-end mapping	Heterozygous	2,811
essv13591845	copy number loss	SAMN00001098	Sequencing	Read depth and paired-end mapping	Heterozygous	2,867
essv13591846	copy number loss	SAMN00001110	Sequencing	Read depth and paired-end mapping	Heterozygous	3,124
essv13591847	copy number loss	SAMN00001113	Sequencing	Read depth and paired-end mapping	Heterozygous	2,558
essv13591848	copy number loss	SAMN00001127	Sequencing	Read depth and paired-end mapping	Heterozygous	3,174
essv13591849	copy number loss	SAMN00001135	Sequencing	Read depth and paired-end mapping	Heterozygous	3,038
essv13591850	copy number loss	SAMN00001137	Sequencing	Read depth and paired-end mapping	Heterozygous	3,195
essv13591851	copy number loss	SAMN00001140	Sequencing	Read depth and paired-end mapping	Heterozygous	3,101
essv13591852	copy number loss	SAMN00001147	Sequencing	Read depth and paired-end mapping	Heterozygous	3,043
essv13591853	copy number loss	SAMN00001162	Sequencing	Read depth and paired-end mapping	Heterozygous	2,775
essv13591854	copy number loss	SAMN00001175	Sequencing	Read depth and paired-end mapping	Heterozygous	2,829
essv13591855	copy number loss	SAMN00001184	Sequencing	Read depth and paired-end mapping	Heterozygous	2,973
essv13591856	copy number loss	SAMN00001193	Sequencing	Read depth and paired-end mapping	Homozygous	3,046
essv13591857	copy number loss	SAMN00007810	Sequencing	Read depth and paired-end mapping	Heterozygous	3,058
essv13591858	copy number gain	SAMN00009097	Sequencing	Read depth and paired-end mapping	Heterozygous	2,768
essv13591859	copy number gain	SAMN00009103	Sequencing	Read depth and paired-end mapping	Heterozygous	2,711
essv13591860	copy number gain	SAMN00006390	Sequencing	Read depth and paired-end mapping	Heterozygous	2,374
essv13591861	copy number gain	SAMN00006393	Sequencing	Read depth and paired-end mapping	Heterozygous	2,531
essv13591862	copy number gain	SAMN00009225	Sequencing	Read depth and paired-end mapping	Heterozygous	2,491
essv13591863	copy number gain	SAMN00249744	Sequencing	Read depth and paired-end mapping	Heterozygous	2,620
essv13591864	copy number gain	SAMN01761244	Sequencing	Read depth and paired-end mapping	Heterozygous	3,199
essv13591865	copy number gain	SAMN00000461	Sequencing	Read depth and paired-end mapping	Heterozygous	2,585
essv13591866	copy number gain	SAMN00000464	Sequencing	Read depth and paired-end mapping	Heterozygous	2,512
essv13591867	copy number gain	SAMN00000473	Sequencing	Read depth and paired-end mapping	Heterozygous	2,562
essv13591868	copy number gain	SAMN00000490	Sequencing	Read depth and paired-end mapping	Heterozygous	2,423
essv13591869	copy number gain	SAMN00000557	Sequencing	Read depth and paired-end mapping	Heterozygous	2,838

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13591836	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591837	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591838	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591839	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591840	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591841	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591842	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591843	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591844	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591845	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591846	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591847	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591848	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591849	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591850	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591851	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591852	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591853	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591854	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591855	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591856	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591857	Remapped	Perfect	NC_000009.12:g.104 604904_104617879de l	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591858	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591859	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591860	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591861	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591862	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591863	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591864	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591865	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591866	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591867	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591868	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591869	Remapped	Perfect	NC_000009.12:g.104 604904_104617879du p	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,604,904	104,617,879
essv13591836	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591837	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591838	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591839	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591840	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591841	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591842	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591843	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591844	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591845	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591846	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591847	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591848	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591849	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591850	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591851	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591852	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591853	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591854	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591855	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591856	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591857	Submitted genomic		NC_000009.11:g.107 367185_107380160de l	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591858	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591859	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591860	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591861	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591862	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591863	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591864	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591865	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591866	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591867	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591868	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160
essv13591869	Submitted genomic		NC_000009.11:g.107 367185_107380160du p	GRCh37 (hg19)		NC_000009.11	Chr9	107,367,185	107,380,160

dbVar

Database of genomic structural variation

esv3621336

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.