A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716699



Internal ID9950987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3996983..3997488hg38UCSC Ensembl
Outerchr18:3996983..3997488hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877239, essv6750190, essv6937003, essv6703251, essv6665972, essv6744528, essv6753093, essv6804035, essv6945163, essv6868082, essv6885578, essv6713678, essv6824384, essv6932702, essv6846516, essv6729060, essv6682298, essv6816101, essv6901998, essv6863267, essv6812099, essv6674379, essv6699239, essv6696380, essv6925081, essv6769083, essv6796830, essv6954065, essv6971636, essv6843248, essv6809948, essv6916847, essv6780223, essv6949892, essv6891882, essv6928571, essv6721436, essv6839391, essv6909567, essv6688884, essv6801048, essv6921021, essv6874224, essv6895327, essv6806934, essv6888597, essv6692239, essv6913196, essv6747362, essv6678583, essv6717593, essv6685686, essv6710124, essv6812758, essv6732916, essv6898182, essv6741689, essv6744065, essv6871277, essv6880026, essv6715565, essv6692243, essv6835605
SamplesSSM036, SSM083, SSM071, SSM024, SSM075, SSM046, SSM064, SSM079, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM029, SSM096, SSM089, SSM017, SSM019, SSM035, SSM032, SSM003, SSM031, SSM067, SSM044, SSM014, SSM033, SSM006, SSM085, SSM072, SSM082, SSM020, SSM007, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM091, SSM055, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesDLGAP1, DLGAP1-AS4
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)esv2716699
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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