A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6818411



Internal ID9874108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167295515..167295666hg38UCSC Ensembl
Outerchr6:167709003..167709154hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733224, esv2733226, esv2733231, esv2733230
Supporting Variants
SamplesSSM078
Known GenesUNC93A
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)essv6818411
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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