A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985637



Internal ID12972489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166336255..166650201hg38UCSC Ensembl
Innerchr5:165763260..166077206hg19UCSC Ensembl
Innerchr5:165695838..166009784hg18UCSC Ensembl
Innerchr5:165695838..166009784hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38313947
hg19313947
hg18313947
hg17313947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752063
Supporting Variants
SamplesBEC_314
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985637
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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