A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925231



Internal ID10032787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51890764..51890897hg38UCSC Ensembl
Outerchr20:50507303..50507436hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722519, esv2722515, esv2722516
Supporting Variants
SamplesSSM018
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)essv6925231
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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