A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987428



Internal ID12975981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81965093..82059311hg38UCSC Ensembl
Innerchr2:82192217..82286435hg19UCSC Ensembl
Innerchr2:82045728..82139946hg18UCSC Ensembl
Innerchr2:82103875..82198093hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3894219
hg1994219
hg1894219
hg1794219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751901
Supporting Variants
SamplesBEC_630
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987428
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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