A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722193



Internal ID10305829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:12684256..12684371hg38UCSC Ensembl
Outerchr20:12664903..12665018hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858551, essv6960777
SamplesSSM087, SSM026
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)esv2722193
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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