A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752290



Internal ID12639156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:24131802..24544902hg38UCSC Ensembl
Innerchr9:24131800..24544900hg19UCSC Ensembl
Innerchr9:24121800..24534900hg18UCSC Ensembl
Innerchr9:24121800..24534900hg17UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38413101
hg19413101
hg18413101
hg17413101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981635, essv6988430, essv6981634, essv6985622
SamplesBEC_309
Known GenesIZUMO3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752290
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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