A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958997



Internal ID9714753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16201627..16201938hg38UCSC Ensembl
Outerchr11:16223173..16223484hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744136
Supporting Variants
SamplesSSM026
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)essv6958997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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