A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979593



Internal ID12633740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:186603..266505hg38UCSC Ensembl
Innerchr9:186603..266505hg19UCSC Ensembl
Innerchr9:176603..256505hg18UCSC Ensembl
Innerchr9:176603..256505hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3879903
hg1979903
hg1879903
hg1779903
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34610
Supporting Variants
SamplesNA18576
Known GenesC9orf66, DOCK8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979593
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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