A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985636



Internal ID12972494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166121041..166620882hg38UCSC Ensembl
Innerchr5:165548046..166047887hg19UCSC Ensembl
Innerchr5:165480624..165980465hg18UCSC Ensembl
Innerchr5:165480624..165980465hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38499842
hg19499842
hg18499842
hg17499842
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985636
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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