A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761618



Internal ID9822052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63770721..63771291hg38UCSC Ensembl
Outerchr20:62402074..62402644hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38571
hg19571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722970, esv2722959
Supporting Variants
SamplesSSM061
Known GenesZBTB46
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)essv6761618
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer