A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733164



Internal ID9967486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:165958432..165958592hg38UCSC Ensembl
Outerchr6:166371920..166372080hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694306
SamplesSSM037
Known GenesLINC00473
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)esv2733164
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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