A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987204



Internal ID12636398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229767779..229964779hg38UCSC Ensembl
Innerchr2:230632495..230829495hg19UCSC Ensembl
Innerchr2:230340739..230537739hg18UCSC Ensembl
Innerchr2:230458000..230655000hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38197001
hg19197001
hg18197001
hg17197001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751841
Supporting Variants
SamplesSPC_138
Known GenesFBXO36, TRIP12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987204
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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