A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982427



Internal ID12627036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110170991..110438136hg38UCSC Ensembl
Innerchr9:112933271..113200416hg19UCSC Ensembl
Innerchr9:111973092..112240237hg18UCSC Ensembl
Innerchr9:110012826..110279971hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38267146
hg19267146
hg18267146
hg17267146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752274
Supporting Variants
SamplesBEC_44
Known GenesAKAP2, C9orf152, PALM2-AKAP2, SVEP1, TXN, TXNDC8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982427
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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