A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982845



Internal ID12975644
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 StatusS
Merged Variantsesv2751889
Supporting Variants
SamplesBEC_604
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982845
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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