esv3983697

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:16
Validation:Not tested
Clinical Assertions: No
Region Size:3,427

Publication(s):Fakhro 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: 478 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):48,579,304-48,582,730

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3983697	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
esv3983697	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	48,600,856	48,604,282

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25901161	deletion	DGMQ-31425	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,581
essv25912738	deletion	DGMQ-32311	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,571
essv25914478	deletion	DGMQ-31643	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,512
essv25916182	deletion	DGMQ-31406	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,602
essv25919236	deletion	DGMQ-32291	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,453
essv25919563	deletion	DGMQ-31583	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,709
essv25923295	deletion	DGMQ-31036	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,631
essv25925095	deletion	DGMQ-32044	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,484
essv25926752	deletion	DGMQ-32160	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,682
essv25930294	deletion	DGMQ-32220	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,685
essv25932166	deletion	DGMQ-32251	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,647
essv25933996	deletion	DGMQ-31489	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,736
essv25948097	deletion	DGMQ-32309	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,760
essv25981584	deletion	DGMQ-32060	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,610
essv26011801	deletion	DGMQ-32285	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,598
essv26046330	deletion	DGMQ-31058	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,740

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25901161	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25912738	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25914478	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25916182	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25919236	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25919563	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25923295	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25925095	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25926752	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25930294	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25932166	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25933996	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25948097	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25981584	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv26011801	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv26046330	Remapped	Perfect	NC_000011.10:g.(48 579304_?)_(?_48582 730)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	48,579,304	48,582,730
essv25901161	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25912738	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25914478	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25916182	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25919236	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25919563	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25923295	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25925095	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25926752	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25930294	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25932166	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25933996	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25948097	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv25981584	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv26011801	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282
essv26046330	Submitted genomic		NC_000011.9:g.(486 00856_?)_(?_486042 82)del	GRCh37 (hg19)		NC_000011.9	Chr11	48,600,856	48,604,282

dbVar

Database of genomic structural variation

esv3983697

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

No genotype data were submitted for this variant