A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682481



Internal ID9748526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63723370..63723542hg38UCSC Ensembl
Outerchr20:62354722..62354894hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722961, esv2722959, esv2722960, esv2722963
Supporting Variants
SamplesSSM033
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)essv6682481
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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