A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986169



Internal ID12627034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110185676..110415044hg38UCSC Ensembl
Innerchr9:112947956..113177324hg19UCSC Ensembl
Innerchr9:111987777..112217145hg18UCSC Ensembl
Innerchr9:110027511..110256879hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38229369
hg19229369
hg18229369
hg17229369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752274
Supporting Variants
SamplesBEC_44
Known GenesC9orf152, SVEP1, TXN, TXNDC8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986169
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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