A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv223e201



Internal ID20125110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45377870..46464067hg38UCSC Ensembl
chr13:45952005..47038202hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg381086198
hg191086198
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
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)dgv223e201
Frequency
Sample Size96
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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