A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6695430



Internal ID9762188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60460699..60461873hg38UCSC Ensembl
Outerchr11:60228172..60229346hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744572, esv2744569
Supporting Variants
SamplesSSM037
Known GenesMS4A1
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)essv6695430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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