A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34705



Internal ID12644055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:38503878..38683303hg38UCSC Ensembl
Innerchr9:38503875..38683300hg19UCSC Ensembl
Innerchr9:38493875..38673300hg18UCSC Ensembl
Innerchr9:38493875..38673300hg17UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38179426
hg19179426
hg18179426
hg17179426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv261e55
Supporting Variantsessv6979058, essv6979059, essv6979057, essv6979056, essv6988093
SamplesNA12872
Known GenesANKRD18A, FAM201A, FAM95C
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)esv34705
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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