A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952005



Internal ID10059132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138332107..138332579hg38UCSC Ensembl
Outerchr6:138653244..138653716hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732767
Supporting Variants
SamplesSSM025
Known GenesKIAA1244
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)essv6952005
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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