A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752068



Internal ID12985620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114037..32237419hg38UCSC Ensembl
Innerchr5:32114143..32237525hg19UCSC Ensembl
Innerchr5:32149900..32273282hg18UCSC Ensembl
Innerchr5:32149900..32273282hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38123383
hg19123383
hg18123383
hg17123383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv203e55
Supporting Variantsessv6981751, essv6985666, essv6981750
SamplesBEC_333
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)esv2752068
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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