A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726367



Internal ID9960674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189645545..189653128hg38UCSC Ensembl
Outerchr3:189363334..189370917hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg387584
hg197584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934006, essv6802109, essv6726485, essv6840615, essv6679813, essv6673954, essv6790044, essv6817395, essv6718780, essv6762240, essv6947170, essv6910151, essv6756978, essv6813758, essv6875217, essv6849854, essv6667223, essv6896313, essv6899144, essv6789840, essv6810811, essv6686699, essv6733923, essv6722646, essv6711241, essv6777563, essv6929783, essv6962623, essv6942597, essv6707852, essv6883748, essv6754029, essv6804952, essv6926254
SamplesSSM100, SSM059, SSM027, SSM024, SSM045, SSM046, SSM011, SSM009, SSM073, SSM074, SSM042, SSM041, SSM023, SSM058, SSM092, SSM084, SSM021, SSM062, SSM019, SSM035, SSM067, SSM044, SSM001, SSM033, SSM020, SSM078, SSM005, SSM077, SSM076, SSM070, SSM095, SSM099, SSM049, SSM030
Known GenesTP63
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)esv2726367
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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