A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805512



Internal ID9862762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:123227848..123228214hg38UCSC Ensembl
Outerchr6:123548993..123549359hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732659
Supporting Variants
SamplesSSM074
Known GenesTRDN
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)essv6805512
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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