A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722415



Internal ID10306051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:40982368..40983115hg38UCSC Ensembl
Outerchr20:39611008..39611755hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753214, essv6816215, essv6858588, essv6750304, essv6846626, essv6880130, essv6780384, essv6928702, essv6741809, essv6946418, essv6703426, essv6717723, essv6674618, essv6954225, essv6666251, essv6725409, essv6960816
SamplesSSM045, SSM087, SSM039, SSM093, SSM057, SSM029, SSM026, SSM019, SSM003, SSM031, SSM067, SSM085, SSM077, SSM025, SSM043, SSM052, SSM056
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)esv2722415
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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