A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984520



Internal ID12630433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229802854..230006807hg38UCSC Ensembl
Innerchr2:230667570..230871523hg19UCSC Ensembl
Innerchr2:230375814..230579767hg18UCSC Ensembl
Innerchr2:230493075..230697028hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38203954
hg19203954
hg18203954
hg17203954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751842
Supporting Variants
SamplesBEC_714
Known GenesFBXO36, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984520
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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