A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714642



Internal ID9948926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:66379844..66380358hg38UCSC Ensembl
Outerchr16:66413747..66414261hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6696162, essv6831863, essv6867875, essv6665601, essv6815945, essv6877105, essv6792449, essv6909441, essv6706715, essv6812637, essv6732715, essv6843040, essv6776243, essv6820337, essv6879894, essv6966719, essv6754931, essv6928421, essv6971434, essv6945604, essv6709964, essv6888459, essv6916676, essv6699135, essv6810554, essv6742720, essv6828293, essv6835429, essv6777044, essv6784190, essv6674101, essv6901838, essv6691077, essv6803905, essv6741544, essv6940950, essv6858082, essv6920801, essv6735541, essv6895177, essv6750058, essv6824203, essv6721264, essv6913177, essv6796631, essv6772646, essv6788356, essv6949699
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM082, SSM084, SSM040, SSM078, SSM089, SSM031, SSM071, SSM016, SSM001, SSM024, SSM041, SSM077, SSM005, SSM012, SSM093, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM047, SSM073, SSM069, SSM037, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM015, SSM014, SSM049, SSM008, SSM098, SSM076, SSM081, SSM070, SSM080
Known GenesCDH5
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)esv2714642
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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