A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745430



Internal ID9809518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190121882..190123376hg38UCSC Ensembl
Outerchr3:189839671..189841165hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381495
hg191495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726375
Supporting Variants
SamplesSSM055
Known GenesLEPREL1
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)essv6745430
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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