A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981617



Internal ID12625714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43609548..43752092hg38UCSC Ensembl
Innerchr2:43836687..43979231hg19UCSC Ensembl
Innerchr2:43690191..43832735hg18UCSC Ensembl
Innerchr2:43748338..43890882hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38142545
hg19142545
hg18142545
hg17142545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751890
Supporting Variants
SamplesBEC_305
Known GenesLOC728819, PLEKHH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981617
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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