A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890747



Internal ID19185049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:144753164..144801867hg38UCSC Ensembl
Outerchr5:144753164..144801867hg38UCSC Ensembl
Innerchr5:144132727..144181430hg19UCSC Ensembl
Outerchr5:144132727..144181430hg19UCSC Ensembl
Innerchr5:144112920..144161623hg18UCSC Ensembl
Outerchr5:144112920..144161623hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3848704
hg1948704
hg1848704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791794
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890747
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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