A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716803



Internal ID9951092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11825620..11826586hg38UCSC Ensembl
Outerchr18:11825619..11826585hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977472, essv6877255, essv6820567, essv6766204, essv6682316, essv6668603, essv6761503, essv6902013, essv6945351, essv6767153, essv6744542, essv6898195, essv6937017, essv6967059, essv6913362, essv6846527, essv6750205, essv6715654, essv6780237, essv6769096, essv6816116, essv6779010, essv6758728, essv6871286, essv6772862, essv6949914, essv6971655, essv6776442, essv6699253, essv6717607, essv6840065, essv6753107, essv6835620, essv6858381, essv6738424, essv6666000, essv6735658, essv6812243, essv6692247, essv6744210, essv6932715, essv6928587, essv6747372, essv6756124, essv6832054, essv6941186, essv6792667, essv6788571, essv6824398, essv6916860, essv6674394, essv6913398
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM053, SSM082, SSM006, SSM036, SSM055, SSM033, SSM061, SSM099, SSM078, SSM043, SSM090, SSM064, SSM031, SSM020, SSM016, SSM057, SSM001, SSM024, SSM067, SSM050, SSM077, SSM012, SSM056, SSM085, SSM009, SSM066, SSM028, SSM029, SSM003, SSM030, SSM069, SSM021, SSM002, SSM063, SSM087, SSM038, SSM019, SSM079, SSM004, SSM015, SSM049, SSM008, SSM058, SSM059, SSM081, SSM070
Known GenesGNAL
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)esv2716803
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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