A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720033



Internal ID9954329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48554650..48557751hg38UCSC Ensembl
Outerchr2:48781789..48784890hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764370, essv6739086, essv6868950, essv6917750, essv6846465, essv6789497, essv6679480, essv6864330, essv6750830, essv6721077, essv6686402, essv6968288, essv6736213, essv6804647, essv6742382, essv6819820, essv6810551, essv6697199, essv6962036, essv6859534, essv6844135, essv6896058, essv6902817, essv6722297, essv6801847, essv6933640, essv6832861, essv6879475, essv6919451, essv6756757, essv6906402, essv6807606, essv6693124, essv6929413, essv6836489, essv6718466, essv6762023, essv6683085, essv6787120, essv6816936, essv6675504, essv6952773, essv6946800, essv6689548, essv6871952, essv6825314, essv6745162, essv6704125, essv6753744, essv6781211, essv6748016, essv6818976, essv6910377, essv6766769, essv6777242, essv6886210, essv6877874, essv6755264, essv6714557, essv6821482, essv6880635, essv6667060, essv6797783, essv6972899, essv6726147, essv6697676
SamplesSSM059, SSM036, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM038, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM057, SSM058, SSM028, SSM090, SSM021, SSM029, SSM096, SSM062, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM037, SSM076, SSM010, SSM091, SSM055, SSM070, SSM034, SSM004, SSM099, SSM043, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesSTON1, STON1-GTF2A1L
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)esv2720033
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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