A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982380



Internal ID12973637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117296362..117363294hg38UCSC Ensembl
Innerchr2:118053938..118120870hg19UCSC Ensembl
Innerchr2:117770408..117837340hg18UCSC Ensembl
Innerchr2:117770168..117837100hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3866933
hg1966933
hg1866933
hg1766933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751820
Supporting Variants
SamplesBEC_431
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982380
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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