A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34322



Internal ID12643675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16428382..17030830hg38UCSC Ensembl
Innerchr8:16285891..16888339hg19UCSC Ensembl
Innerchr8:16330262..16932710hg18UCSC Ensembl
Innerchr8:16330262..16932710hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38602449
hg19602449
hg18602449
hg17602449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv250e55
Supporting Variantsessv6979007, essv6986766, essv6979006, essv6990314, essv6979005, essv6979008
SamplesNA12814
Known GenesFGF20, MICU3
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)esv34322
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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