A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791794



Internal ID19166049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:144753164..144801867hg38UCSC Ensembl
Innerchr5:144132727..144181430hg19UCSC Ensembl
Innerchr5:144112920..144161623hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3848704
hg1948704
hg1848704
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890747
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791794
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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