A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982042



Internal ID12974343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117248808..117363294hg38UCSC Ensembl
Innerchr2:118006384..118120870hg19UCSC Ensembl
Innerchr2:117722854..117837340hg18UCSC Ensembl
Innerchr2:117722614..117837100hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38114487
hg19114487
hg18114487
hg17114487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751818
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)essv6982042
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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