A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746153



Internal ID10327123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30771308..30772288hg38UCSC Ensembl
Outerchr1:31244155..31245135hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666913, essv6793309, essv6759064, essv6747795, essv6839991, essv6829026, essv6769539, essv6714263, essv6669377, essv6692789, essv6801630, essv6929073, essv6750619, essv6961581, essv6925704, essv6816603, essv6784787, essv6910065, essv6853257, essv6916874, essv6843906, essv6863971, essv6813182, essv6972380, essv6921742, essv6738823, essv6877009, essv6950362, essv6753511, essv6735985, essv6773452, essv6776952, essv6766562, essv6914012, essv6703877, essv6668975, essv6710606, essv6967950, essv6689276, essv6742157, essv6729643, essv6748586, essv6816843, essv6804413, essv6789172, essv6898597, essv6695798, essv6733496, essv6902555, essv6756566
SamplesSSM059, SSM036, SSM008, SSM071, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM073, SSM050, SSM074, SSM042, SSM057, SSM058, SSM028, SSM084, SSM047, SSM018, SSM061, SSM029, SSM089, SSM019, SSM003, SSM031, SSM067, SSM001, SSM066, SSM006, SSM085, SSM081, SSM040, SSM020, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM010, SSM070, SSM004, SSM043, SSM052, SSM049, SSM056, 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)esv2746153
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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