A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9755958



Internal ID18383518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031253..54040349hg38UCSC Ensembl
Outerchr20:54029962..54042623hg38UCSC Ensembl
Innerchr20:52647792..52656888hg19UCSC Ensembl
Outerchr20:52646501..52659162hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3812662
hg1912662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3557211
Supporting Variants
Samples
Known GenesBCAS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9755958
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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