A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979143



Internal ID12632993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64115335..64285152hg38UCSC Ensembl
Innerchr2:64342469..64512286hg19UCSC Ensembl
Innerchr2:64195973..64365790hg18UCSC Ensembl
Innerchr2:64254120..64423937hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38169818
hg19169818
hg18169818
hg17169818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34955
Supporting Variants
SamplesNA18500
Known GenesLINC00309, PELI1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979143
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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