A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983129



Internal ID12628167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:186603..277989hg38UCSC Ensembl
Innerchr9:186603..277989hg19UCSC Ensembl
Innerchr9:176603..267989hg18UCSC Ensembl
Innerchr9:176603..267989hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3891387
hg1991387
hg1891387
hg1791387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752303
Supporting Variants
SamplesBEC_544
Known GenesC9orf66, DOCK8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983129
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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