A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718140



Internal ID9952431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152354773..152355408hg38UCSC Ensembl
Outerchr1:152327249..152327884hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797563, essv6821291, essv6906204, essv6972549, essv6697060, essv6682923, essv6929173, essv6780987, essv6692883, essv6707348, essv6813255, essv6736066, essv6859322, essv6954920, essv6961730, essv6847192, essv6853410, essv6829107, essv6669129, essv6761916, essv6750694
SamplesSSM027, SSM086, SSM088, SSM031, SSM072, SSM020, SSM057, SSM050, SSM041, SSM077, SSM062, SSM029, SSM037, SSM034, SSM087, SSM038, SSM079, SSM068, SSM026, SSM014, SSM081
Known GenesFLG2, FLG-AS1
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)esv2718140
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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