A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722107



Internal ID10305743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2534359..2534435hg38UCSC Ensembl
Outerchr20:2515005..2515081hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6820684
SamplesSSM078
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)esv2722107
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