A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6937210



Internal ID9695987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63731224..63731844hg38UCSC Ensembl
Outerchr20:62362576..62363196hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722965, esv2722959
Supporting Variants
SamplesSSM021
Known GenesZGPAT
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)essv6937210
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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