A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732571



Internal ID9966890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110749817..110750378hg38UCSC Ensembl
Outerchr6:111071020..111071581hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6875800, essv6754614, essv6802631, essv6884300, essv6814397, essv6887073, essv6943516, essv6734416, essv6737024, essv6969449, essv6704321, essv6918913, essv6694233, essv6934812, essv6896153, essv6798945, essv6808500, essv6757458, essv6730955, essv6748816, essv6774657, essv6930516, essv6926883, essv6963846, essv6676651, essv6746001, essv6974913, essv6849249, essv6796265, essv6818327, essv6690544, essv6671214, essv6811386, essv6719517, essv6684058, essv6837505, essv6833855, essv6727196, essv6830247, essv6760104, essv6679388, essv6899767, essv6939099, essv6929418, essv6826479, essv6845028
SamplesSSM100, SSM059, SSM036, SSM083, SSM027, SSM075, SSM046, SSM009, SSM073, SSM050, SSM002, SSM023, SSM058, SSM028, SSM092, SSM021, SSM047, SSM061, SSM029, SSM096, SSM017, SSM019, SSM032, SSM003, SSM031, SSM044, SSM086, SSM066, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM078, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM055, SSM095, SSM034, SSM049, SSM056
Known GenesCDK19
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)esv2732571
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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