A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586642



Internal ID6974160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83336697..83513352hg38UCSC Ensembl
chr1:83802380..83979035hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38176656
hg19176656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv30e214
Supporting Variantsessv9996250, essv9996257, essv9996280, essv9996258, essv9996247, essv9996235, essv9996251, essv9996276, essv9996269, essv9996288, essv9996253, essv9996285, essv9996226, essv9996262, essv9996238, essv9996248, essv9996290, essv9996284, essv9996243, essv9996281, essv9996275, essv9996287, essv9996246, essv9996254, essv9996295, essv9996272, essv9996268, essv9996241, essv9996265, essv9996277, essv9996244, essv9996234, essv9996237, essv9996227, essv9996264, essv9996232, essv9996259, essv9996256, essv9996252, essv9996263, essv9996240, essv9996296, essv9996283, essv9996260, essv9996228, essv9996239, essv9996294, essv9996274, essv9996286, essv9996273, essv9996266, essv9996278, essv9996231, essv9996261, essv9996293, essv9996230, essv9996270, essv9996245, essv9996255, essv9996279, essv9996236, essv9996292, essv9996233, essv9996267, essv9996242, essv9996282, essv9996249, essv9996271, essv9996291, essv9996289, essv9996229
SamplesHG02419, NA20752, HG03115, HG03963, HG03295, NA19920, NA18510, NA12750, HG03095, NA19201, NA19198, HG03736, NA19131, NA07347, HG03246, NA19138, NA18498, NA20539, NA12005, HG03520, HG02315, HG03045, NA19731, HG02642, NA19159, HG02477, HG00365, HG03120, NA18605, HG01435, NA19152, HG02449, NA19043, HG02554, NA20895, HG02144, HG03428, HG03027, HG02537, NA18907, HG01047, HG02881, HG02283, NA19160, HG02594, HG01990, HG01896, NA20821, HG03437, HG02049, HG03117, HG02314, NA18865, HG03702, NA19835, HG03127, HG02941, HG03304, HG03473, HG03157, HG01917, NA19351, HG03313, HG02938, HG01085, HG02679, HG04171, HG02051, HG02947, NA18488, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586642
Frequency
Sample Size2504
Observed Gain71
Observed Loss0
Observed Complex0
Frequencyn/a


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