A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728896



Internal ID9963211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:184652616..184653590hg38UCSC Ensembl
Outerchr4:185573770..185574744hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38975
hg19975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963105, essv6757160, essv6736693, essv6764776, essv6670563, essv6974133, essv6854684, essv6817764, essv6860386, essv6742852, essv6848560, essv6865171, essv6956399
SamplesSSM059, SSM027, SSM087, SSM050, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM053, SSM063
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)esv2728896
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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