A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981683



Internal ID12972521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117221194..117345194hg38UCSC Ensembl
Innerchr2:117978770..118102770hg19UCSC Ensembl
Innerchr2:117695240..117819240hg18UCSC Ensembl
Innerchr2:117695000..117819000hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38124001
hg19124001
hg18124001
hg17124001
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)essv6981683
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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