A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2732571

Internal ID9966890
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110749817..110750378hg38UCSC Ensembl
Outerchr6:111071020..111071581hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934812, essv6969449, essv6757458, essv6748816, essv6884300, essv6818327, essv6814397, essv6929418, essv6676651, essv6974913, essv6798945, essv6671214, essv6887073, essv6837505, essv6845028, essv6896153, essv6704321, essv6796265, essv6737024, essv6734416, essv6760104, essv6849249, essv6930516, essv6694233, essv6811386, essv6943516, essv6727196, essv6875800, essv6833855, essv6826479, essv6808500, essv6918913, essv6926883, essv6719517, essv6684058, essv6679388, essv6899767, essv6830247, essv6774657, essv6690544, essv6754614, essv6802631, essv6939099, essv6963846, essv6746001, essv6730955
SamplesSSM022, SSM027, SSM092, SSM082, SSM086, SSM006, SSM036, SSM055, SSM061, SSM078, SSM031, SSM072, SSM020, SSM032, SSM083, SSM050, SSM077, SSM005, SSM100, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM095, SSM047, SSM073, SSM021, SSM002, SSM037, SSM034, SSM046, SSM019, SSM096, SSM023, SSM044, SSM075, SSM049, SSM076, SSM058, SSM059, SSM081, SSM080
Known GenesCDK19
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2732571
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0

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