A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779246



Internal ID19167579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:128897208..128953581hg38UCSC Ensembl
Innerchr5:128232901..128289274hg19UCSC Ensembl
Innerchr5:128260800..128317173hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3856374
hg1956374
hg1856374
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890734
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779246
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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