A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980967



Internal ID12982353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30252860..30375988hg38UCSC Ensembl
Innerchr9:30252858..30375986hg19UCSC Ensembl
Innerchr9:30242858..30365986hg18UCSC Ensembl
Innerchr9:30242858..30365986hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38123129
hg19123129
hg18123129
hg17123129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34879
Supporting Variants
SamplesNA19154
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980967
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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