A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989776



Internal ID12629469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43580926..43768352hg38UCSC Ensembl
Innerchr2:43808065..43995491hg19UCSC Ensembl
Innerchr2:43661569..43848995hg18UCSC Ensembl
Innerchr2:43719716..43907142hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38187427
hg19187427
hg18187427
hg17187427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751892
Supporting Variants
SamplesBEC_642
Known GenesLOC728819, PLEKHH2, THADA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989776
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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