A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787660



Internal ID19180426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56305560..56352277hg38UCSC Ensembl
Innerchr5:55601387..55648104hg19UCSC Ensembl
Innerchr5:55637144..55683861hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3846718
hg1946718
hg1846718
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894191
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787660
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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