A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858566



Internal ID9909508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23672277..23803500hg38UCSC Ensembl
Outerchr20:23652914..23784137hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38131224
hg19131224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722303
Supporting Variants
SamplesSSM087
Known GenesCST1, CST4
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)essv6858566
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