A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893643



Internal ID18837777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4529987..4974421hg38UCSC Ensembl
Outerchr3:4529987..4974421hg38UCSC Ensembl
Innerchr3:4571671..5016106hg19UCSC Ensembl
Outerchr3:4571671..5016106hg19UCSC Ensembl
Innerchr3:4546671..4991106hg18UCSC Ensembl
Outerchr3:4546671..4991106hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38444435
hg19444436
hg18444436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25783694
Samples
Known GenesBHLHE40-AS1, EGOT, ITPR1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893643
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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