A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722998



Internal ID10306634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8559714..8560222hg38UCSC Ensembl
Outerchr21:9448547..9449055hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783432, essv6735916, essv6742038, essv6917282, essv6846868, essv6756455, essv6718154, essv6949006, essv6842986, essv6744851, essv6753417, essv6843750, essv6666740, essv6877585, essv6769404, essv6937522, essv6902396, essv6764105, essv6941621, essv6747682, essv6921582, essv6950386, essv6776798, essv6668288, essv6750512, essv6694998, essv6738727, essv6821036, essv6766458, essv6793931, essv6747431, essv6682712, essv6858997
SamplesSSM008, SSM024, SSM064, SSM087, SSM050, SSM057, SSM058, SSM092, SSM084, SSM021, SSM029, SSM062, SSM017, SSM003, SSM001, SSM033, SSM066, SSM006, SSM085, SSM007, SSM078, SSM016, SSM053, SSM005, SSM022, SSM010, SSM055, SSM004, SSM052, SSM049, SSM056, SSM063, 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)esv2722998
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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