A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990275



Internal ID12979006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:57175214..57214514hg38UCSC Ensembl
Innerchr2:57402349..57441649hg19UCSC Ensembl
Innerchr2:57255853..57295153hg18UCSC Ensembl
Innerchr2:57314000..57353300hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3839301
hg1939301
hg1839301
hg1739301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34506
Supporting Variants
SamplesNA12155
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990275
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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