A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591978



Internal ID6632261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111125619..111128553hg38UCSC Ensembl
Innerchr2:111125619..111128553hg38UCSC Ensembl
Outerchr2:111125236..111128876hg38UCSC Ensembl
chr2:111883196..111886130hg19UCSC Ensembl
Innerchr2:111883196..111886130hg19UCSC Ensembl
Outerchr2:111882813..111886453hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382935
hg192935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10620028, essv10619985, essv10619968, essv10619999, essv10620021, essv10620022, essv10619970, essv10620027, essv10619993, essv10619978, essv10619977, essv10620019, essv10620025, essv10619980, essv10620017, essv10620018, essv10619983, essv10620026, essv10619987, essv10620016, essv10619994, essv10619988, essv10619995, essv10619982, essv10620005, essv10619989, essv10619973, essv10619979, essv10620004, essv10620015, essv10620014, essv10619997, essv10620023, essv10619974, essv10619975, essv10620012, essv10620013, essv10620002, essv10620020, essv10619984, essv10619972, essv10619981, essv10620011, essv10620009, essv10619986, essv10619996, essv10620010, essv10620007, essv10619969, essv10619990, essv10620008, essv10619998, essv10619971, essv10620000, essv10620001, essv10619992, essv10619976, essv10619991, essv10620024, essv10620006, essv10620003
SamplesHG04131, NA18621, HG02166, NA18530, NA18952, NA18975, HG00705, NA18612, HG01800, NA19090, HG00457, NA19003, HG02152, NA18545, HG02020, HG02389, HG01871, NA18557, NA18625, HG00479, NA18632, HG00543, HG02137, NA18566, NA18622, HG01595, NA18617, HG02032, NA19086, NA18539, HG01874, NA18640, NA18633, HG02178, HG00559, HG02069, NA18942, NA18613, HG02072, HG02084, NA19091, HG02085, NA18619, HG00590, HG04155, NA18599, HG02154, HG01872, HG00409, HG00580, NA18971, HG02141, HG00530, NA18571, HG02409, NA18610, NA18549, HG00626, HG00684, NA19087, NA18962
Known GenesBCL2L11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591978
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer