A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34904



Internal ID12644254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28979483..30284483hg38UCSC Ensembl
Innerchr2:29202349..30507349hg19UCSC Ensembl
Innerchr2:29055853..30360853hg18UCSC Ensembl
Innerchr2:29114000..30419000hg17UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg381305001
hg191305001
hg181305001
hg171305001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979605, essv6986903, essv6979604, essv6979606, essv6990385
SamplesNA18579
Known GenesALK, C2orf71, CLIP4, FAM179A, LBH, YPEL5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34904
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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