A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985627



Internal ID12625776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:408467..699075hg38UCSC Ensembl
Innerchr5:408582..699190hg19UCSC Ensembl
Innerchr5:461582..752190hg18UCSC Ensembl
Innerchr5:461582..752190hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38290609
hg19290609
hg18290609
hg17290609
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985627
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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