A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981682



Internal ID12972520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117189423..117687760hg38UCSC Ensembl
Innerchr2:117946999..118445336hg19UCSC Ensembl
Innerchr2:117663469..118161806hg18UCSC Ensembl
Innerchr2:117663229..118161566hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38498338
hg19498338
hg18498338
hg17498338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751819
Supporting Variants
SamplesBEC_319
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981682
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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