A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981386



Internal ID12972032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14189102..14240153hg38UCSC Ensembl
Innerchr2:14329227..14380277hg19UCSC Ensembl
Innerchr2:14246678..14297728hg18UCSC Ensembl
Innerchr2:14279825..14330875hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3851052
hg1951051
hg1851051
hg1751051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751827
Supporting Variants
SamplesBEC_175
Known GenesLINC00276
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981386
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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