A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691547



Internal ID9758025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134069342..134069740hg38UCSC Ensembl
Outerchr11:133939237..133939635hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745312
Supporting Variants
SamplesSSM036
Known GenesJAM3
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)essv6691547
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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