A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720078



Internal ID9954374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:53962225..55281329hg38UCSC Ensembl
Outerchr2:54189362..55508465hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381319105
hg191319104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952818, essv6929417, essv6859545, essv6914242, essv6910381, essv6697732, essv6950871, essv6797790, essv6859543, essv6871959, essv6847512, essv6896061, essv6816942, essv6804653, essv6844141, essv6942164, essv6938002, essv6704129, essv6933646, essv6972907, essv6889271, essv6785337, essv6955283, essv6898853, essv6667063, essv6906410, essv6942161, essv6699956, essv6773743, essv6707548, essv6683092, essv6968294, essv6846532, essv6972909, essv6844143, essv6840285, essv6671599, essv6751364, essv6955282, essv6819054, essv6847511, essv6892602, essv6877880, essv6874954, essv6946804, essv6929419, essv6718471, essv6829286, essv6789505, essv6683090, essv6880639, essv6769850, essv6683091, essv6962046, essv6704128, essv6889272, essv6933647, essv6922066, essv6739092, essv6840286, essv6787154, essv6745167, essv6938001, essv6929420, essv6813439, essv6675508, essv6758597, essv6742386, essv6721110, essv6736218, essv6942163, essv6710887, essv6756759, essv6820042, essv6801851, essv6864336, essv6764372, essv6879520, essv6922064, essv6810558, essv6847509, essv6697205, essv6679485, essv6810559, essv6759293, essv6972908, essv6675509, essv6864337, essv6846521, essv6821486, essv6853702, essv6847513, essv6853701, essv6879509, essv6726152, essv6955285, essv6781217, essv6889270, essv6902823, essv6968295, essv6699958, essv6922065, essv6714561, essv6859544, essv6906409, essv6787142, essv6686407, essv6962047, essv6699957, essv6675511
SamplesSSM100, SSM059, SSM008, SSM027, SSM024, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM021, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM030, SSM063, SSM012
Known GenesACYP2, C2orf73, CLHC1, EML6, MIR4426, MTIF2, PSME4, RPL23AP32, RPS27A, RTN4, SPTBN1, TSPYL6
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)esv2720078
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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