A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722657



Internal ID10306293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:60764255..60764439hg38UCSC Ensembl
Outerchr20:59339311..59339495hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828618, essv6892016, essv6801214, essv6674642, essv6852678, essv6812872, essv6710276
SamplesSSM097, SSM041, SSM031, SSM086, SSM072, SSM080, SSM076
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)esv2722657
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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