A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747348



Internal ID9981632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45431103..45431607hg38UCSC Ensembl
Outerchr13:46005238..46005742hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38505
hg19505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916271, essv6749791, essv6900698, essv6746959, essv6738008, essv6773631, essv6940329, essv6807209, essv6953391, essv6775843, essv6803611, essv6876786, essv6912761, essv6744134, essv6758324, essv6909640, essv6928051, essv6959523, essv6741211, essv6755689, essv6761081, essv6763488, essv6668300, essv6835954, essv6716946, essv6977504, essv6681729, essv6752674, essv6905046, essv6936309, essv6920365, essv6735295, essv6691734, essv6819882, essv6970983, essv6842593, essv6765860, essv6966043, essv6768625, essv6739553, essv6712066
SamplesSSM059, SSM036, SSM008, SSM027, SSM064, SSM013, SSM009, SSM073, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM061, SSM029, SSM062, SSM026, SSM017, SSM019, SSM003, SSM033, SSM066, SSM006, SSM007, SSM015, SSM078, SSM016, SSM053, SSM010, SSM055, SSM025, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, 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)esv2747348
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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