A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783694



Internal ID18824898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4529987..4974421hg38UCSC Ensembl
Innerchr3:4571671..5016106hg19UCSC Ensembl
Innerchr3:4546671..4991106hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38444435
hg19444436
hg18444436
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893643
Supporting Variants
Samples
Known GenesBHLHE40-AS1, EGOT, ITPR1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=206
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783694
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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