A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722215



Internal ID9956514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:14935200..15015577hg38UCSC Ensembl
Outerchr20:14915846..14996223hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3880378
hg1980378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6832157, essv6882951, essv6688979
SamplesSSM035, SSM094, SSM081
Known GenesMACROD2
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)esv2722215
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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