A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725399



Internal ID10309035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:70365952..70366298hg38UCSC Ensembl
Outerchr3:70415103..70415449hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810731, essv6802031, essv6962467, essv6848832, essv6700238, essv6922333, essv6955735, essv6859886, essv6973438, essv6906702, essv6880833, essv6854103, essv6785612, essv6669885, essv6847938, essv6883660, essv6817254, essv6864674, essv6942460, essv6793882, essv6807828, essv6675755, essv6896235, essv6766950, essv6899062, essv6673232, essv6875131, essv6829525, essv6773963, essv6683308, essv6869133, essv6833095, essv6686606
SamplesSSM100, SSM071, SSM027, SSM075, SSM011, SSM064, SSM087, SSM039, SSM073, SSM088, SSM023, SSM092, SSM090, SSM018, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM066, SSM081, SSM082, SSM078, SSM005, SSM076, SSM095, SSM034, SSM099
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)esv2725399
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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