A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722416



Internal ID9956715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41257679..41258128hg38UCSC Ensembl
Outerchr20:39886319..39886768hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735756, essv6766271
SamplesSSM063, SSM049
Known GenesZHX3
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)esv2722416
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer