A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720350



Internal ID9954646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186870482..186871018hg38UCSC Ensembl
Outerchr1:186839614..186840150hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804523, essv6785832, essv6725991, essv6810265, essv6853444, essv6836314, essv6699747, essv6829132, essv6951396, essv6883355, essv6703970, essv6877764, essv6707371, essv6817832, essv6917851, essv6816758, essv6686266, essv6910187, essv6669172, essv6722123, essv6889136, essv6895958, essv6682947, essv6933443, essv6764266, essv6847238, essv6714378, essv6766657, essv6825124, essv6710716, essv6777062, essv6906242, essv6756652
SamplesSSM059, SSM083, SSM045, SSM046, SSM064, SSM087, SSM097, SSM039, SSM009, SSM093, SSM074, SSM042, SSM002, SSM041, SSM021, SSM035, SSM003, SSM031, SSM067, SSM014, SSM086, SSM081, SSM040, SSM015, SSM078, SSM080, SSM010, SSM095, SSM034, SSM004, SSM099, SSM043, SSM063
Known GenesPLA2G4A
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)esv2720350
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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