A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745441



Internal ID10326411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24193828..24197199hg38UCSC Ensembl
Outerchr1:24520318..24523689hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383372
hg193372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839984, essv6714255, essv6885989, essv6821192, essv6750615, essv6916806, essv6695743, essv6843899, essv6759057, essv6738817, essv6933318, essv6789163, essv6883261, essv6793302, essv6742151, essv6718171, essv6747792, essv6725853, essv6876987, essv6925700, essv6829021, essv6753506, essv6871726, essv6950318, essv6967939, essv6961574, essv6863968, essv6699600, essv6689272, essv6748509, essv6941796, essv6785000, essv6877671, essv6847036, essv6816595, essv6710597, essv6797458, essv6843920, essv6784743, essv6917445, essv6696996, essv6902548, essv6719009, essv6766557, essv6816798, essv6880424, essv6761868, essv6666907, essv6950572, essv6929065
SamplesSSM036, SSM008, SSM071, SSM027, SSM046, SSM011, SSM064, SSM079, SSM038, SSM039, SSM013, SSM009, SSM093, SSM042, SSM057, SSM023, SSM058, SSM028, SSM084, SSM021, SSM069, SSM061, SSM096, SSM062, SSM089, SSM017, SSM019, SSM094, SSM003, SSM044, SSM086, SSM006, SSM085, SSM081, SSM072, SSM020, SSM007, SSM078, SSM053, SSM010, SSM091, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052, SSM056, SSM030, 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)esv2745441
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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