A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722356



Internal ID9956655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34653923..34656499hg38UCSC Ensembl
Outerchr20:33241727..33244303hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858579, essv6967266, essv6774041, essv6840920, essv6937159, essv6666241, essv6913545, essv6753211, essv6763923, essv6780232, essv6733048, essv6756223, essv6954224, essv6682431, essv6941317, essv6843394, essv6716298, essv6820726, essv6813299, essv6905742, essv6744629, essv6921180, essv6745253
SamplesSSM008, SSM027, SSM087, SSM013, SSM009, SSM057, SSM058, SSM084, SSM021, SSM047, SSM029, SSM062, SSM017, SSM001, SSM033, SSM006, SSM007, SSM015, SSM078, SSM053, SSM022, SSM010, SSM025
Known GenesPIGU
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)esv2722356
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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