A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752071



Internal ID12638937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:378298..699075hg38UCSC Ensembl
Innerchr5:378413..699190hg19UCSC Ensembl
Innerchr5:431413..752190hg18UCSC Ensembl
Innerchr5:431413..752190hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38320778
hg19320778
hg18320778
hg17320778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981649, essv6985627, essv6981650
SamplesBEC_311
Known GenesAHRR, C5orf55, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752071
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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