A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892030



Internal ID9939623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723509..63723632hg38UCSC Ensembl
Outerchr20:62354861..62354984hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722959, esv2722960, esv2722961, esv2722964
Supporting Variants
SamplesSSM097
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)essv6892030
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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