A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790573



Internal ID19171085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99164961..99391185hg38UCSC Ensembl
Innerchr5:98500665..98726889hg19UCSC Ensembl
Innerchr5:98528565..98754788hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38226225
hg19226225
hg18226224
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890675
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790573
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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