A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722937



Internal ID10306573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63559306..63559887hg38UCSC Ensembl
Outerchr20:62190659..62191240hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38582
hg19582
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6729235, essv6950097, essv6892028, essv6725444, essv6960888, essv6666320, essv6678779, essv6682480, essv6696592, essv6852712, essv6832209, essv6706964, essv6780565, essv6946060, essv6824572, essv6902172, essv6689011, essv6784578, essv6954281, essv6895486, essv6941369, essv6871404, essv6885706, essv6741840, essv6693565, essv6967342, essv6780422, essv6971849, essv6863507, essv6721630, essv6892029, essv6909737, essv6776612, essv6725445, essv6824573, essv6750335, essv6703469, essv6888714, essv6792863, essv6841187, essv6835781, essv6828639, essv6769216, essv6733101, essv6801228, essv6813632
SamplesSSM008, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM097, SSM039, SSM009, SSM088, SSM023, SSM028, SSM090, SSM047, SSM029, SSM096, SSM026, SSM035, SSM032, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM005, SSM080, SSM037, SSM022, SSM010, SSM070, SSM095, SSM025, SSM052, SSM098, SSM056, SSM012
Known GenesHELZ2
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)esv2722937
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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