A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716511



Internal ID10300147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82613715..82614880hg38UCSC Ensembl
Outerchr17:80571591..80572756hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763841, essv6852377, essv6843237, essv6913107, essv6901990, essv6747354, essv6954052, essv6796812, essv6967011, essv6921010, essv6832030, essv6721416, essv6877235, essv6778733, essv6744520, essv6674358, essv6765598, essv6882854, essv6895315, essv6941156, essv6766186, essv6820535, essv6788542, essv6758701, essv6753082, essv6710111, essv6665937, essv6756105, essv6744009, essv6811944, essv6839898, essv6977273, essv6735641, essv6880019, essv6738406, essv6713663, essv6729041, essv6812746, essv6769070, essv6761483, essv6715476, essv6703230, essv6801030, essv6928564, essv6668584, essv6925070, essv6932690, essv6846512, essv6806927, essv6750175, essv6741677, essv6706884, essv6699233, essv6858341, essv6936992, essv6949878, essv6780207, essv6692166, essv6678563, essv6792637, essv6784364, essv6824362, essv6692226, essv6682282, essv6835590, essv6945810, essv6776418
SamplesSSM059, SSM036, SSM008, SSM071, SSM027, SSM024, SSM046, SSM064, SSM079, SSM087, SSM038, SSM039, SSM009, SSM093, SSM050, SSM074, SSM042, SSM002, SSM041, SSM057, SSM023, SSM058, SSM092, SSM084, SSM021, SSM018, SSM069, SSM061, SSM029, SSM062, SSM017, SSM019, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM053, SSM005, SSM076, SSM022, SSM010, SSM055, SSM070, SSM025, SSM004, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesWDR45B
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)esv2716511
Frequency
Sample Size96
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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