A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798020



Internal ID19177242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14216791..14237461hg38UCSC Ensembl
Innerchr5:14216900..14237570hg19UCSC Ensembl
Innerchr5:14269900..14290570hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3820671
hg1920671
hg1820671
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894138
Supporting Variants
Samples
Known GenesTRIO
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798020
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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