A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751839



Internal ID12638705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187171220..187276963hg38UCSC Ensembl
Innerchr2:188035947..188141690hg19UCSC Ensembl
Innerchr2:187744192..187849935hg18UCSC Ensembl
Innerchr2:187861453..187967196hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38105744
hg19105744
hg18105744
hg17105744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989899, essv6984020
SamplesBEC_745
Known Genes
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)esv2751839
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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