A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733124



Internal ID10316760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163611483..163611946hg38UCSC Ensembl
Outerchr6:164032515..164032978hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6849338, essv6837563, essv6947936, essv6701238, essv6676705, essv6957233, essv6671325, essv6711962
SamplesSSM083, SSM024, SSM039, SSM042, SSM026, SSM032, SSM031, SSM086
Known Genes
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)esv2733124
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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