A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747303



Internal ID10328273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41355897..41356791hg38UCSC Ensembl
Outerchr13:41930033..41930927hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977492, essv6909573, essv6851439, essv6959513, essv6691728, essv6735292, essv6966034, essv6779593, essv6738003, essv6842584, essv6712021, essv6752667, essv6749786, essv6732271, essv6806482, essv6940296, essv6831450, essv6688155, essv6936301, essv6803605, essv6739475, essv6775835, essv6897747, essv6932003, essv6744126, essv6755682, essv6731486, essv6940499, essv6761077, essv6819877, essv6668295, essv6768620, essv6695715, essv6724635, essv6787901, essv6876782, essv6920358, essv6807154, essv6949230, essv6924481, essv6815582, essv6758321, essv6791992, essv6846064, essv6773553, essv6916265, essv6772212, essv6953382, essv6905035, essv6835013, essv6716938, essv6713128, essv6900632, essv6912754, essv6857437, essv6698857, essv6746950, essv6970975, essv6706343, essv6835898, essv6928047, essv6681719, essv6972462, essv6885178, essv6741204
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM038, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM003, SSM067, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM012
Known GenesNAA16
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)esv2747303
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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