A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605764



Internal ID6992701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90441995..90444577hg38UCSC Ensembl
Innerchr5:90442007..90444566hg38UCSC Ensembl
Outerchr5:90441984..90444589hg38UCSC Ensembl
chr5:89737812..89740394hg19UCSC Ensembl
Innerchr5:89737824..89740383hg19UCSC Ensembl
Outerchr5:89737801..89740406hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg382583
hg192583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11976363, essv11976386, essv11976350, essv11976384, essv11976382, essv11976378, essv11976356, essv11976379, essv11976373, essv11976351, essv11976371, essv11976362, essv11976352, essv11976358, essv11976383, essv11976369, essv11976380, essv11976388, essv11976360, essv11976385, essv11976370, essv11976372, essv11976357, essv11976367, essv11976376, essv11976374, essv11976359, essv11976355, essv11976377, essv11976375, essv11976381, essv11976353, essv11976368, essv11976361, essv11976389, essv11976366, essv11976364, essv11976354, essv11976387, essv11976365
SamplesHG02614, NA20339, HG03366, NA19909, NA18870, HG02811, HG03452, NA19023, NA19457, NA20287, NA20291, NA19038, NA18868, NA19385, HG03352, NA19026, NA18864, HG03267, NA19789, NA19921, NA19200, HG03343, HG02442, HG03547, NA19327, HG02144, NA19449, HG03064, NA19037, HG02611, HG02941, NA19310, NA19248, HG02974, HG03442, NA19351, NA19102, HG03401, NA19030, NA19146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605764
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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