A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981280



Internal ID12626407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:40910..272950hg38UCSC Ensembl
Innerchr9:40910..272950hg19UCSC Ensembl
Innerchr9:30910..262950hg18UCSC Ensembl
Innerchr9:30910..262950hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38232041
hg19232041
hg18232041
hg17232041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752301
Supporting Variants
SamplesBEC_376
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981280
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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