A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979178



Internal ID12633062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64140453..64280837hg38UCSC Ensembl
Innerchr2:64367587..64507971hg19UCSC Ensembl
Innerchr2:64221091..64361475hg18UCSC Ensembl
Innerchr2:64279238..64419622hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38140385
hg19140385
hg18140385
hg17140385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34698
Supporting Variants
SamplesNA18502
Known GenesLINC00309, PELI1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979178
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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