A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751827



Internal ID12985379
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 StatusM
Merged Variants
Supporting Variantsessv6981386, essv6988398, essv6981387
SamplesBEC_175
Known GenesLINC00276
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751827
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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