A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35003



Internal ID12991039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35060310..35175504hg38UCSC Ensembl
Innerchr22:35456303..35571497hg19UCSC Ensembl
Innerchr22:33786303..33901497hg18UCSC Ensembl
Innerchr22:33780857..33896051hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38115195
hg19115195
hg18115195
hg17115195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979723, essv6979724, essv6979722, essv6988229, essv6988228
SamplesNA18612
Known GenesISX
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)esv35003
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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