A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772999



Internal ID10178242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37487325..37488336hg38UCSC Ensembl
Outerchr20:36115727..36116738hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722389
Supporting Variants
SamplesSSM065
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)essv6772999
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