A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744009



Internal ID9978293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2530961..2531445hg38UCSC Ensembl
Outerchr11:2552191..2552675hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842269, essv6970600, essv6795850, essv6931639, essv6976813, essv6724317, essv6831128, essv6948880
SamplesSSM071, SSM024, SSM045, SSM028, SSM084, SSM029, SSM081, SSM020
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)esv2744009
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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