A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852591



Internal ID10250814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6170308..6170618hg38UCSC Ensembl
Outerchr20:6150955..6151265hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722146
Supporting Variants
SamplesSSM086
Known Genes
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)essv6852591
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