A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748240



Internal ID9810879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146469173..146544010hg38UCSC Ensembl
Outerchr3:146186960..146261797hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3874838
hg1974838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726024
Supporting Variants
SamplesSSM056
Known GenesPLSCR1, PLSCR2
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)essv6748240
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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