A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722213



Internal ID9956512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14738194..15032734hg38UCSC Ensembl
Outerchr20:14718840..15013380hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38294541
hg19294541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735735, essv6832157, essv6882951, essv6688979, essv6758795, essv6913974, essv6693088, essv6846600, essv6871365, essv6735736
SamplesSSM059, SSM002, SSM090, SSM035, SSM094, SSM085, SSM081, SSM005, SSM049
Known GenesMACROD2, MACROD2-AS1
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)esv2722213
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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