A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983224



Internal ID12628333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43609548..43741940hg38UCSC Ensembl
Innerchr2:43836687..43969079hg19UCSC Ensembl
Innerchr2:43690191..43822583hg18UCSC Ensembl
Innerchr2:43748338..43880730hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38132393
hg19132393
hg18132393
hg17132393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751891
Supporting Variants
SamplesBEC_557
Known GenesLOC728819, PLEKHH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983224
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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