A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907040



Internal ID9636178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146469173..146544197hg38UCSC Ensembl
Outerchr3:146186960..146261984hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3875025
hg1975025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726024
Supporting Variants
SamplesSSM001
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)essv6907040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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