A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751889



Internal ID12985441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42866627..42914629hg38UCSC Ensembl
Innerchr2:43093767..43141769hg19UCSC Ensembl
Innerchr2:42947271..42995273hg18UCSC Ensembl
Innerchr2:43005418..43053420hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3848003
hg1948003
hg1848003
hg1748003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982846, essv6982845
SamplesBEC_604
Known Genes
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)esv2751889
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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