A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990445



Internal ID12634612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75600960..75686775hg38UCSC Ensembl
Innerchr2:75828086..75913901hg19UCSC Ensembl
Innerchr2:75681594..75767409hg18UCSC Ensembl
Innerchr2:75739741..75825556hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3885816
hg1985816
hg1885816
hg1785816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35142
Supporting Variants
SamplesNA18956
Known GenesGCFC2, MRPL19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990445
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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