A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714837



Internal ID10126834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:119195794..119196201hg38UCSC Ensembl
Outerchr3:118914641..118915048hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725821
Supporting Variants
SamplesSSM043
Known GenesUPK1B
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)essv6714837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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