A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868252



Internal ID9918223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36858355..36858451hg38UCSC Ensembl
Outerchr20:35486758..35486854hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722381, esv2722382
Supporting Variants
SamplesSSM089
Known GenesSOGA1
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)essv6868252
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