A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748839



Internal ID9983123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70424475..70425011hg38UCSC Ensembl
Outerchr14:70891192..70891728hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv267e201
Supporting Variantsessv6868364, essv6820056, essv6800533, essv6945273, essv6702748, essv6870936, essv6772357, essv6792153, essv6932167, essv6774786, essv6709741, essv6862736, essv6888226, essv6717088, essv6823927, essv6775972, essv6885272, essv6740464, essv6897855, essv6857671, essv6891526, essv6806602, essv6900839, essv6894914, essv6966278, essv6953537, essv6959771, essv6779738, essv6681859, essv6688511, essv6758430, essv6706466, essv6842729, essv6909156, essv6673645, essv6689177, essv6815704, essv6835147, essv6678106, essv6685348, essv6765940, essv6747069, essv6720976, essv6741336, essv6788068, essv6698960, essv6831596, essv6949381, essv6755801, essv6713251, essv6691848, essv6744230, essv6851669, essv6761171, essv6916383, essv6882547, essv6808353, essv6873892, essv6728596, essv6867524, essv6905175
SamplesSSM100, SSM059, SSM036, SSM008, SSM027, SSM024, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM074, SSM042, SSM088, SSM041, SSM023, SSM058, SSM084, SSM090, SSM069, SSM061, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM077, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM063
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)esv2748839
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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