A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987607



Internal ID12630443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229809272..230061420hg38UCSC Ensembl
Innerchr2:230673988..230926136hg19UCSC Ensembl
Innerchr2:230382232..230634380hg18UCSC Ensembl
Innerchr2:230499493..230751641hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38252149
hg19252149
hg18252149
hg17252149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751842
Supporting Variants
SamplesBEC_714
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987607
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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