A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984113



Internal ID12977694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230314780..230393780hg38UCSC Ensembl
Innerchr2:231179495..231258495hg19UCSC Ensembl
Innerchr2:230887739..230966739hg18UCSC Ensembl
Innerchr2:231005000..231084000hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3879001
hg1979001
hg1879001
hg1779001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751844
Supporting Variants
SamplesBEC_775
Known GenesSP140L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984113
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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