A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670563



Internal ID9740304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184652930..184653035hg38UCSC Ensembl
Outerchr4:185574084..185574189hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728896, esv2728897
Supporting Variants
SamplesSSM031
Known GenesPRIMPOL
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)essv6670563
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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