A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727828



Internal ID10311464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:73543029..73543501hg38UCSC Ensembl
Outerchr4:74408746..74409218hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848347, essv6883858, essv6676045, essv6947353, essv6906980, essv6899295, essv6693689, essv6854492, essv6851387, essv6777717, essv6875333, essv6881061, essv6962900, essv6956184, essv6860217, essv6726664, essv6670326, essv6825895, essv6817574, essv6810928
SamplesSSM100, SSM027, SSM024, SSM046, SSM011, SSM087, SSM088, SSM092, SSM026, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM078, SSM080, SSM037, SSM076, SSM095
Known Genes
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)esv2727828
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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