A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938427



Internal ID9701770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8413378..8413758hg38UCSC Ensembl
Outerchr4:8415105..8415485hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727114
Supporting Variants
SamplesSSM022
Known GenesACOX3
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)essv6938427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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