A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3561886



Internal ID18762962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52591699..52592006hg38UCSC Ensembl
Outerchr3:52591697..52592009hg38UCSC Ensembl
Innerchr3:52625715..52626022hg19UCSC Ensembl
Outerchr3:52625713..52626025hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9760633
Samples
Known GenesPBRM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3561886
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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