A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752277



Internal ID12639143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114323991..114338965hg38UCSC Ensembl
Innerchr9:117086271..117101245hg19UCSC Ensembl
Innerchr9:116126092..116141066hg18UCSC Ensembl
Innerchr9:114165825..114180799hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3814975
hg1914975
hg1814975
hg1714975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981910, essv6987082
SamplesBEC_500
Known GenesAKNA, ORM1, ORM2
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)esv2752277
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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