A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752070



Internal ID12985622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114037..32260077hg38UCSC Ensembl
Innerchr5:32114143..32260183hg19UCSC Ensembl
Innerchr5:32149900..32295940hg18UCSC Ensembl
Innerchr5:32149900..32295940hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38146041
hg19146041
hg18146041
hg17146041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv203e55
Supporting Variantsessv6981392, essv6981393, essv6981391
SamplesBEC_175
Known GenesGOLPH3, MTMR12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752070
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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