A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2726769

Internal ID9961077
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1240356..1240637hg38UCSC Ensembl
Outerchr4:1234144..1234425hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942652, essv6736523, essv6781624, essv6821860, essv6718819, essv6845153, essv6742666, essv6817434, essv6813795, essv6777615, essv6910753, essv6804975, essv6755054, essv6764625, essv6854328, essv6912374, essv6829645, essv6789891, essv6762267, essv6767052, essv6722689, essv6955885, essv6707885, essv6922863, essv6955972, essv6962702, essv6693559, essv6848170, essv6807949, essv6745469, essv6869248, essv6711281, essv6951316, essv6751144, essv6850131, essv6886510, essv6790421, essv6892946, essv6860069, essv6906854, essv6714949, essv6794055, essv6675908, essv6798224, essv6759576, essv6724120, essv6903184, essv6922496, essv6757001, essv6947213, essv6968719, essv6914571, essv6878168, essv6686736, essv6754057, essv6739443, essv6825758, essv6896338, essv6774103, essv6844457, essv6679860, essv6689894, essv6770239, essv6836852, essv6748304, essv6733950, essv6973697, essv6667240, essv6704462, essv6875243, essv6938394, essv6926295, essv6833236, essv6730304, essv6880955, essv6883777, essv6872272, essv6918170, essv6785777, essv6821809, essv6726537
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM035, SSM025, SSM072, SSM071, SSM016, SSM057, SSM001, SSM032, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM041, SSM077, SSM062, SSM093, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM069, SSM002, SSM037, SSM063, SSM087, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesCTBP1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2726769
Sample Size96
Observed Gain0
Observed Loss81
Observed Complex0

Hosted by The Centre for Applied Genomics
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