A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779336



Internal ID9838198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60704784..60704930hg38UCSC Ensembl
Outerchr11:60472257..60472403hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744575
Supporting Variants
SamplesSSM067
Known GenesMS4A8
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)essv6779336
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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