A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981649



Internal ID12625761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:378298..647701hg38UCSC Ensembl
Innerchr5:378413..647816hg19UCSC Ensembl
Innerchr5:431413..700816hg18UCSC Ensembl
Innerchr5:431413..700816hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38269404
hg19269404
hg18269404
hg17269404
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
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981649
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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