A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985400



Internal ID12625252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135233917..135401795hg38UCSC Ensembl
Innerchr9:138125763..138293641hg19UCSC Ensembl
Innerchr9:137265584..137433462hg18UCSC Ensembl
Innerchr9:135351708..135519586hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38167879
hg19167879
hg18167879
hg17167879
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)essv6985400
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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