A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812090



Internal ID9868334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:16201628..16201931hg38UCSC Ensembl
Outerchr11:16223174..16223477hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744136
Supporting Variants
SamplesSSM076
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)essv6812090
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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