A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2720078

Internal ID9954374
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53962225..55281329hg38UCSC Ensembl
Outerchr2:54189362..55508465hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6751364, essv6781217, essv6787154, essv6955283, essv6726152, essv6764372, essv6955285, essv6840285, essv6699957, essv6874954, essv6877880, essv6972909, essv6962047, essv6756759, essv6968295, essv6787142, essv6714561, essv6758597, essv6804653, essv6879520, essv6679485, essv6929420, essv6929417, essv6914242, essv6972908, essv6859544, essv6675509, essv6675511, essv6933646, essv6892602, essv6816942, essv6864337, essv6739092, essv6769850, essv6922066, essv6742386, essv6686407, essv6699956, essv6946804, essv6898853, essv6829286, essv6889271, essv6718471, essv6889270, essv6906410, essv6942161, essv6846532, essv6933647, essv6952818, essv6704129, essv6847511, essv6950871, essv6683090, essv6972907, essv6789505, essv6819054, essv6710887, essv6955282, essv6697205, essv6683091, essv6704128, essv6922065, essv6864336, essv6962046, essv6859543, essv6906409, essv6968294, essv6810559, essv6844143, essv6697732, essv6675508, essv6699958, essv6840286, essv6847513, essv6759293, essv6813439, essv6797790, essv6929419, essv6889272, essv6671599, essv6801851, essv6667063, essv6773743, essv6785337, essv6810558, essv6902823, essv6721110, essv6880639, essv6853702, essv6736218, essv6942164, essv6745167, essv6938001, essv6847509, essv6896061, essv6871959, essv6820042, essv6859545, essv6879509, essv6821486, essv6922064, essv6910381, essv6683092, essv6707548, essv6844141, essv6942163, essv6847512, essv6853701, essv6938002, essv6846521
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM086, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM035, SSM025, SSM072, SSM020, SSM016, SSM001, SSM032, SSM039, SSM024, SSM094, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM085, SSM009, SSM011, SSM066, SSM028, SSM029, SSM030, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM038, SSM046, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070
Known GenesACYP2, C2orf73, CLHC1, EML6, MIR4426, MTIF2, PSME4, RPL23AP32, RPS27A, RTN4, SPTBN1, TSPYL6
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2720078
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0

Hosted by The Centre for Applied Genomics
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