A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989278



Internal ID12974333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117296194..117363194hg38UCSC Ensembl
Innerchr2:118053770..118120770hg19UCSC Ensembl
Innerchr2:117770240..117837240hg18UCSC Ensembl
Innerchr2:117770000..117837000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3867001
hg1967001
hg1867001
hg1767001
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)essv6989278
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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