A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989451



Internal ID12983422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117508194..117619194hg38UCSC Ensembl
Innerchr2:118265770..118376770hg19UCSC Ensembl
Innerchr2:117982240..118093240hg18UCSC Ensembl
Innerchr2:117982000..118093000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38111001
hg19111001
hg18111001
hg17111001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751821
Supporting Variants
SamplesSPC_171
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989451
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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