A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722919



Internal ID10306555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63372019..63372737hg38UCSC Ensembl
Outerchr20:62003371..62004089hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6877374, essv6729233, essv6921233, essv6880157, essv6812888, essv6858650, essv6773059, essv6941368, essv6810080, essv6804181, essv6763949, essv6874362, essv6741839, essv6685851, essv6820777, essv6693554, essv6932890, essv6666088, essv6717763, essv6780554, essv6913594, essv6797044, essv6835780, essv6682479, essv6917025, essv6713857, essv6950096, essv6706963, essv6696590, essv6946830, essv6788757, essv6816243, essv6824570, essv6901318, essv6846648, essv6967341, essv6946058, essv6745543, essv6703467, essv6674672, essv6852710, essv6692390, essv6666319, essv6744657, essv6954279
SamplesSSM100, SSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM046, SSM079, SSM065, SSM087, SSM039, SSM073, SSM093, SSM042, SSM023, SSM092, SSM069, SSM029, SSM062, SSM017, SSM003, SSM031, SSM086, SSM033, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM091, SSM025, SSM034, SSM004, SSM043, SSM052
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)esv2722919
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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