A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982428



Internal ID12627038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:110173165..110438165hg38UCSC Ensembl
Innerchr9:112935445..113200445hg19UCSC Ensembl
Innerchr9:111975266..112240266hg18UCSC Ensembl
Innerchr9:110015000..110280000hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38265001
hg19265001
hg18265001
hg17265001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982428
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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