A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv223e201

Internal ID20125110
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377870..46464067hg38UCSC Ensembl
chr13:45952005..47038202hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2747343, esv2747347
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM042, SSM078, SSM043, SSM088, SSM089, SSM064, SSM031, SSM025, SSM020, SSM071, SSM016, SSM057, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM077, SSM062, SSM012, SSM100, SSM056, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM030, SSM073, SSM069, SSM021, SSM002, SSM034, SSM063, SSM087, SSM046, SSM019, SSM079, SSM052, SSM068, SSM044, SSM075, SSM015, SSM026, SSM049, SSM008, SSM098, SSM058, SSM059, SSM081, SSM080
Known GenesCOG3, CPB2, CPB2-AS1, FAM194B, KIAA0226L, LCP1, LINC00563, LRRC63, SIAH3, SLC25A30, SPERT, TPT1-AS1, ZC3H13
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)dgv223e201
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0

Hosted by The Centre for Applied Genomics
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