A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988435



Internal ID12972484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166120444..166277426hg38UCSC Ensembl
Innerchr5:165547449..165704431hg19UCSC Ensembl
Innerchr5:165480027..165637009hg18UCSC Ensembl
Innerchr5:165480027..165637009hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38156983
hg19156983
hg18156983
hg17156983
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)essv6988435
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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