A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812164



Internal ID10215087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102601140..102601422hg38UCSC Ensembl
Outerchr11:102471871..102472153hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744992, esv2744991
Supporting Variants
SamplesSSM076
Known GenesMMP20
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)essv6812164
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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