A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981444



Internal ID12625422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135245869..135431118hg38UCSC Ensembl
Innerchr9:138137715..138322964hg19UCSC Ensembl
Innerchr9:137277536..137462785hg18UCSC Ensembl
Innerchr9:135363660..135548909hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38185250
hg19185250
hg18185250
hg17185250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752284
Supporting Variants
SamplesBEC_22
Known GenesC9orf62
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981444
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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