A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978848



Internal ID12979208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17701479..17793434hg38UCSC Ensembl
Innerchr5:17701588..17793543hg19UCSC Ensembl
Innerchr5:17734300..17829300hg18UCSC Ensembl
Innerchr5:17734300..17829300hg17UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3891956
hg1991956
hg1895001
hg1795001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35046
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978848
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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