A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842269



Internal ID9894837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2531028..2531427hg38UCSC Ensembl
Outerchr11:2552258..2552657hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744009
Supporting Variants
SamplesSSM084
Known GenesKCNQ1
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)essv6842269
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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