A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790439



Internal ID19162931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103748433..104198183hg38UCSC Ensembl
Innerchr5:103084134..103533884hg19UCSC Ensembl
Innerchr5:103112033..103561783hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38449751
hg19449751
hg18449751
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890690
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=117
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790439
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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