A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6916965



Internal ID9678096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23705995..23768716hg38UCSC Ensembl
Outerchr20:23686632..23749353hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3862722
hg1962722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722307, esv2722304, esv2722305, esv2722303
Supporting Variants
SamplesSSM016
Known GenesCST1
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)essv6916965
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