A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980760



Internal ID12625251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135267209..135402209hg38UCSC Ensembl
Innerchr9:138159055..138294055hg19UCSC Ensembl
Innerchr9:137298876..137433876hg18UCSC Ensembl
Innerchr9:135385000..135520000hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38135001
hg19135001
hg18135001
hg17135001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752283
Supporting Variants
SamplesBEC_131
Known GenesC9orf62
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980760
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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