A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731830



Internal ID9966148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32400700..32401162hg38UCSC Ensembl
Outerchr6:32368477..32368939hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38463
hg19463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757367, essv6734319, essv6667521, essv6743124
SamplesSSM053, SSM030, SSM049, SSM059
Known GenesBTNL2
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)esv2731830
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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