A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981910



Internal ID12627438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114323991..114332765hg38UCSC Ensembl
Innerchr9:117086271..117095045hg19UCSC Ensembl
Innerchr9:116126092..116134866hg18UCSC Ensembl
Innerchr9:114165825..114174599hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg388775
hg198775
hg188775
hg178775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752277
Supporting Variants
SamplesBEC_500
Known GenesORM1, ORM2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981910
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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