A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985656



Internal ID12972591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:717906..761633hg38UCSC Ensembl
Innerchr5:718021..761748hg19UCSC Ensembl
Innerchr5:771021..814748hg18UCSC Ensembl
Innerchr5:771021..814748hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3843728
hg1943728
hg1843728
hg1743728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752079
Supporting Variants
SamplesBEC_329
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985656
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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