A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835729



Internal ID10235451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22538800..22538978hg38UCSC Ensembl
Outerchr20:22519438..22519616hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722290
Supporting Variants
SamplesSSM082
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)essv6835729
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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