A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716040



Internal ID9950327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109687281..109712066hg38UCSC Ensembl
Outerchr1:110229903..110254688hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3824786
hg1924786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847150, essv6697046, essv6917517, essv6925768, essv6718233, essv6961692, essv6810407, essv6759122, essv6747852, essv6859289, essv6764223, essv6789234, essv6797536, essv6840046, essv6769605, essv6871779, essv6921813, essv6793381, essv6785377, essv6804470, essv6722073, essv6880491, essv6886048, essv6844565, essv6807447, essv6742210, essv6950637, essv6946569, essv6836270, essv6914066, essv6933383, essv6780963, essv6675287, essv6929149, essv6825067, essv6753570, essv6864061, essv6750672, essv6816690, essv6707327
SamplesSSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM065, SSM038, SSM009, SSM074, SSM088, SSM041, SSM057, SSM058, SSM084, SSM021, SSM018, SSM061, SSM096, SSM089, SSM017, SSM019, SSM094, SSM032, SSM044, SSM086, SSM068, SSM072, SSM020, SSM078, SSM016, SSM053, SSM080, SSM076, SSM091, SSM070, SSM025, SSM056, SSM063
Known GenesGSTM1
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)esv2716040
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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