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dbVar

Database of genomic structural variation

esv29981

Organism: Homo sapiens

Study:estd22 (Levy et al. 2007)
Variant Type:copy number variation
Method Type:Oligo aCGH, SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,214,078

Publication(s):Levy et al. 2007

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: 13868 SVs from 126 studies. See in: genome view

Remapped(Score: Good):105,505,557-106,312,333

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
esv29981	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	105,505,557	106,312,333
esv29981	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	1	1,214,078
esv29981	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	106,252,705	106,768,594
esv29981	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	449,535	1,399,229
esv29981	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000014.7	Chr14	105,042,939	105,839,639

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv84220	copy number gain	HuRef	Oligo aCGH, SNP array	Probe signal intensity, SNP genotyping analysis	780,358

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
essv84220	Remapped	Pass	NT_187600.1:g.(?_1 )_(1214078_?)dup	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	1	1,214,078
essv84220	Remapped	Good	NC_000014.9:g.(?_1 05505557)_(1063123 33_?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	105,505,557	106,312,333
essv84220	Remapped	Pass	NW_004166863.1:g.( ?_449535)_(1399229 _?)dup	GRCh37.p13	Second Pass	NW_004166863.1	Chr14\|NW_0 04166863.1	449,535	1,399,229
essv84220	Remapped	Pass	NC_000014.8:g.(?_1 06252705)_(1067685 94_?)dup	GRCh37.p13	First Pass	NC_000014.8	Chr14	106,252,705	106,768,594
essv84220	Submitted genomic		NC_000014.7:g.(?_1 05042939)_(1058396 39_?)dup	NCBI36 (hg18)		NC_000014.7	Chr14	105,042,939	105,839,639

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

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