A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718977



Internal ID10302613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55526225..55528420hg38UCSC Ensembl
Outerchr19:56037592..56039787hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382196
hg192196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678929, essv6948229, essv6667432, essv6692524, essv6905899, essv6801384, essv6946213, essv6725579, essv6933038, essv6788883, essv6877498, essv6941501, essv6852873, essv6816378, essv6793012, essv6892137, essv6703605, essv6972002, essv6950261, essv6804256, essv6733256, essv6858851, essv6746732, essv6921457, essv6741959, essv6750445, essv6717921, essv6898437, essv6714000, essv6839731, essv6928857, essv6874517, essv6780583, essv6699438, essv6666567, essv6842276, essv6707085, essv6863689, essv6835935, essv6967569, essv6756393, essv6824724, essv6729377, essv6784714, essv6682618, essv6694443, essv6937404, essv6807199, essv6885809, essv6753349, essv6961102, essv6902304, essv6797184, essv6696763, essv6721757, essv6843627, essv6674883, essv6773191, essv6913739, essv6925436, essv6954436, essv6776718, essv6917202
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM074, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM016, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, 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)esv2718977
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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