A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34750



Internal ID12990786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78024019..78207719hg38UCSC Ensembl
Innerchr2:78251145..78434845hg19UCSC Ensembl
Innerchr2:78104653..78288353hg18UCSC Ensembl
Innerchr2:78162800..78346500hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38183701
hg19183701
hg18183701
hg17183701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988265, essv6979907, essv6979908, essv6979906, essv6989128
SamplesNA18859
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34750
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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