A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731548



Internal ID10315184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8432268..8434978hg38UCSC Ensembl
Outerchr6:8432501..8435211hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382711
hg192711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6837334, essv6918652, essv6893411
SamplesSSM083, SSM017, SSM098
Known GenesSLC35B3
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)esv2731548
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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