A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722482



Internal ID10306118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48573388..48573571hg38UCSC Ensembl
Outerchr20:47189926..47190109hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941326, essv6950052
SamplesSSM024, SSM022
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2722482
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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