A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983291



Internal ID12629360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:186603..388338hg38UCSC Ensembl
Innerchr9:186603..388338hg19UCSC Ensembl
Innerchr9:176603..378338hg18UCSC Ensembl
Innerchr9:176603..378338hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38201736
hg19201736
hg18201736
hg17201736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752304
Supporting Variants
SamplesBEC_635
Known GenesC9orf66, DOCK8
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983291
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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