A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721711



Internal ID10305347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236792876..236793928hg38UCSC Ensembl
Outerchr2:237701519..237702571hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381053
hg191053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672721, essv6920929, essv6929592, essv6962333, essv6880865, essv6788565, essv6770008, essv6773884, essv6789656, essv6679636, essv6722453, essv6910536, essv6853969, essv6914379, essv6711047, essv6675673, essv6847786, essv6844272, essv6946981, essv6902976, essv6797967, essv6739246, essv6781387, essv6938154, essv6926093, essv6722410, essv6954028, essv6707683, essv6693308, essv6968465, essv6777402, essv6807762, essv6869083, essv6689696, essv6922241, essv6875078, essv6973253, essv6955574, essv6714702, essv6752864, essv6933809, essv6942355, essv6906616, essv6829443, essv6896173, essv6951043, essv6753882, essv6917927, essv6859773
SamplesSSM036, SSM008, SSM027, SSM024, SSM075, SSM045, SSM065, SSM087, SSM013, SSM009, SSM042, SSM088, SSM041, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM018, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM067, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM020, SSM007, SSM015, SSM016, SSM005, SSM037, SSM022, SSM070, SSM025, SSM004, SSM099, SSM043, SSM052, SSM012
Known Genes
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)esv2721711
Frequency
Sample Size96
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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