esv3872827

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:21
Validation:Not tested
Clinical Assertions: No
Region Size:13,917

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: 210 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):45,451,090-45,467,006

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3872827	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
esv3872827	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23465748	deletion	HG02281	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,314
essv23465749	deletion	HG02308	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,862
essv23465750	deletion	HG02489	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,310
essv23465751	deletion	HG02583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,904
essv23465752	deletion	HG02923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,132
essv23465753	deletion	HG03212	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,788
essv23465754	deletion	HG03304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,065
essv23465755	deletion	HG03351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,155
essv23465756	deletion	NA18871	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,552
essv23465757	deletion	NA18878	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,104
essv23465758	deletion	NA18907	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,088
essv23465759	deletion	NA18910	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv23465760	deletion	NA18933	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,187
essv23465761	deletion	NA19149	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,562
essv23465762	deletion	NA19185	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,486
essv23465763	deletion	NA19200	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,557
essv23465764	deletion	NA19209	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,130
essv23465765	deletion	NA19346	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,048
essv23465766	deletion	NA19351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,893
essv23465767	deletion	NA19473	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,705
essv23465768	deletion	NA19701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,831

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23465748	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465749	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465750	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465751	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465752	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465753	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465754	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465755	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465756	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465757	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465758	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465759	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465760	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465761	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465762	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465763	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465764	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465765	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465766	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465767	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465768	Remapped	Perfect	NC_000014.9:g.(454 51090_45452590)_(4 5465506_45467006)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	45,452,090 (-1000, +500)	45,466,006 (-500, +1000)
essv23465748	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465749	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465750	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465751	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465752	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465753	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465754	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465755	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465756	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465757	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465758	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465759	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465760	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465761	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465762	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465763	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465764	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465765	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465766	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465767	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)
essv23465768	Submitted genomic		NC_000014.8:g.(459 20293_45921793)_(4 5934709_45936209)d el	GRCh37 (hg19)		NC_000014.8	Chr14	45,921,293 (-1000, +500)	45,935,209 (-500, +1000)

dbVar

Database of genomic structural variation

esv3872827

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.