A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770157



Internal ID9829937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:142824015..142824464hg38UCSC Ensembl
Outerchr3:142542857..142543306hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725999
Supporting Variants
SamplesSSM065
Known GenesPCOLCE2
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)essv6770157
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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