A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958947



Internal ID10061394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:664505..664609hg38UCSC Ensembl
Outerchr11:664505..664609hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743862, esv2743861
Supporting Variants
SamplesSSM026
Known GenesDEAF1
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)essv6958947
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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