A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696545



Internal ID10110088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:35581479..35585209hg38UCSC Ensembl
Outerchr20:34169401..34173131hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg383731
hg193731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722366
Supporting Variants
SamplesSSM037
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)essv6696545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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