A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752283



Internal ID12639149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135233917..135414504hg38UCSC Ensembl
Innerchr9:138125763..138306350hg19UCSC Ensembl
Innerchr9:137265584..137446171hg18UCSC Ensembl
Innerchr9:135351708..135532295hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38180588
hg19180588
hg18180588
hg17180588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv263e55
Supporting Variantsessv6980759, essv6980760, essv6985400, essv6980758
SamplesBEC_131
Known GenesC9orf62
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)esv2752283
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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