A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862245



Internal ID9911482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60174907..60175197hg38UCSC Ensembl
Outerchr11:59942380..59942670hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744568
Supporting Variants
SamplesSSM088
Known GenesMS4A6A
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)essv6862245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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