A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2716699

Internal ID9950987
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3996983..3997488hg38UCSC Ensembl
Outerchr18:3996983..3997488hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753093, essv6809948, essv6729060, essv6945163, essv6937003, essv6874224, essv6925081, essv6678583, essv6824384, essv6846516, essv6971636, essv6901998, essv6732916, essv6816101, essv6898182, essv6812758, essv6928571, essv6744065, essv6801048, essv6747362, essv6692243, essv6913196, essv6880026, essv6909567, essv6888597, essv6713678, essv6682298, essv6812099, essv6835605, essv6932702, essv6692239, essv6685686, essv6949892, essv6796830, essv6665972, essv6696380, essv6717593, essv6806934, essv6780223, essv6688884, essv6843248, essv6703251, essv6885578, essv6699239, essv6721436, essv6710124, essv6916847, essv6921021, essv6715565, essv6674379, essv6804035, essv6895327, essv6877239, essv6891882, essv6954065, essv6750190, essv6769083, essv6839391, essv6871277, essv6741689, essv6863267, essv6744528, essv6868082
SamplesSSM007, SSM092, SSM053, SSM082, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM099, SSM042, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM032, SSM039, SSM024, SSM067, SSM083, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM056, SSM085, SSM017, SSM009, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM021, SSM002, SSM037, SSM034, SSM038, SSM046, SSM019, SSM096, SSM079, SSM052, SSM044, SSM074, SSM075, SSM014, SSM098, SSM018, SSM076
Known GenesDLGAP1, DLGAP1-AS4
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2716699
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0

Hosted by The Centre for Applied Genomics
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