A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722466



Internal ID9956765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47150452..47160042hg38UCSC Ensembl
Outerchr20:45779091..45788681hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389591
hg199591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807051, essv6810060, essv6780310, essv6756227, essv6801204, essv6761590, essv6946019, essv6877347, essv6774930, essv6747469, essv6788719, essv6766275, essv6901298, essv6871385, essv6880134
SamplesSSM100, SSM008, SSM075, SSM093, SSM074, SSM023, SSM058, SSM092, SSM090, SSM069, SSM061, SSM001, SSM072, SSM055, SSM063
Known GenesEYA2
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)esv2722466
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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