A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745809



Internal ID10326779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:41265521..41266331hg38UCSC Ensembl
Outerchr12:41659323..41660133hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6819707, essv6867177, essv6870746, essv6800230, essv6900653, essv6709507, essv6673169, essv6908899, essv6977207, essv6851199, essv6949104, essv6888011, essv6959282, essv6713007, essv6862403, essv6827714, essv6865798, essv6965788, essv6775712
SamplesSSM100, SSM027, SSM024, SSM011, SSM042, SSM088, SSM041, SSM090, SSM029, SSM096, SSM026, SSM089, SSM031, SSM014, SSM086, SSM066, SSM072, SSM078, SSM080
Known GenesPDZRN4
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)esv2745809
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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