A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987082



Internal ID12627447
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 StatusS
Merged Variantsesv2752277
Supporting Variants
SamplesBEC_500
Known GenesAKNA, ORM1, ORM2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987082
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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