A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984739



Internal ID12983427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117507986..117619619hg38UCSC Ensembl
Innerchr2:118265562..118377195hg19UCSC Ensembl
Innerchr2:117982032..118093665hg18UCSC Ensembl
Innerchr2:117981792..118093425hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38111634
hg19111634
hg18111634
hg17111634
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)essv6984739
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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