A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744138



Internal ID9978422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16390166..16390299hg38UCSC Ensembl
Outerchr11:16411712..16411845hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672878, essv6809229, essv6866918
SamplesSSM089, SSM031, SSM075
Known GenesSOX6
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)esv2744138
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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