A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726223



Internal ID10309859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:174483656..174484650hg38UCSC Ensembl
Outerchr3:174201446..174202440hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854244, essv6882364, essv6864778, essv6886463, essv6762234, essv6789866, essv6859999, essv6683392, essv6781559, essv6759539, essv6955878, essv6733913, essv6817374, essv6875202, essv6848097, essv6670035, essv6883734, essv6859997, essv6774043, essv6825696, essv6739396, essv6962605, essv6906807, essv6785708, essv6903121, essv6968649, essv6667213, essv6908484, essv6933984, essv6723698, essv6675851, essv6973601, essv6836780, essv6793990
SamplesSSM083, SSM071, SSM027, SSM087, SSM013, SSM009, SSM088, SSM028, SSM092, SSM021, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM032, SSM031, SSM001, SSM014, SSM086, SSM066, SSM068, SSM007, SSM078, SSM080, SSM095, SSM034, SSM052, SSM049, SSM030, SSM012
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)esv2726223
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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