A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982044



Internal ID12974341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117497194..117619194hg38UCSC Ensembl
Innerchr2:118254770..118376770hg19UCSC Ensembl
Innerchr2:117971240..118093240hg18UCSC Ensembl
Innerchr2:117971000..118093000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38122001
hg19122001
hg18122001
hg17122001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751823
Supporting Variants
SamplesBEC_515
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982044
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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