A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722471



Internal ID9956770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47951088..47951567hg38UCSC Ensembl
Outerchr20:46579832..46580311hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666258, essv6685825, essv6780392
SamplesSSM029, SSM067, SSM034
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)esv2722471
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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