A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981650



Internal ID12625760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:407954..681187hg38UCSC Ensembl
Innerchr5:408069..681302hg19UCSC Ensembl
Innerchr5:461069..734302hg18UCSC Ensembl
Innerchr5:461069..734302hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38273234
hg19273234
hg18273234
hg17273234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752071
Supporting Variants
SamplesBEC_311
Known GenesAHRR, C5orf55, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981650
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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