A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989899



Internal ID12630872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187188566..187273124hg38UCSC Ensembl
Innerchr2:188053293..188137851hg19UCSC Ensembl
Innerchr2:187761538..187846096hg18UCSC Ensembl
Innerchr2:187878799..187963357hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3884559
hg1984559
hg1884559
hg1784559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751839
Supporting Variants
SamplesBEC_745
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989899
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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