A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722296



Internal ID10305932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23302659..23303134hg38UCSC Ensembl
Outerchr20:23283296..23283771hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666227, essv6796978, essv6852624
SamplesSSM071, SSM029, SSM086
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)esv2722296
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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