A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747381



Internal ID10328351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:48731305..48732096hg38UCSC Ensembl
Outerchr13:49305441..49306232hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775846, essv6905048, essv6870829, essv6752677, essv6746961, essv6807231, essv6823788, essv6966050, essv6681731, essv6959528, essv6945113, essv6772222, essv6873799, essv6920367, essv6702608, essv6916273, essv6897751, essv6716948, essv6787912, essv6739575, essv6894791, essv6749793, essv6800381, essv6773664, essv6940374, essv6827881, essv6928055, essv6792000, essv6691735, essv6972518, essv6912765, essv6713138, essv6741215, essv6732279, essv6932013, essv6949239, essv6779604, essv6842594, essv6768627, essv6796175, essv6977511, essv6706352, essv6835019, essv6806492, essv6953394, essv6846072, essv6728473, essv6831461, essv6900732, essv6783718, essv6936312, essv6876790, essv6924494, essv6724641, essv6673396, essv6970988, essv6940505, essv6695724, essv6851455
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM039, SSM013, SSM009, SSM074, SSM042, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM022, SSM091, SSM055, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM056, 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)esv2747381
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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