A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732457



Internal ID10316093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:96131879..96132574hg38UCSC Ensembl
Outerchr6:96579755..96580450hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6745992, essv6974885, essv6818308, essv6737013, essv6679288, essv6957105
SamplesSSM050, SSM029, SSM026, SSM078, SSM005, SSM055
Known GenesFUT9
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)esv2732457
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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