A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv958e201



Internal ID20125845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141174165..141215536hg38UCSC Ensembl
chr5:140553746..140595108hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3841372
hg1941363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2730843, esv2730841
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM026, SSM089, SSM017, SSM019, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM012
Known GenesPCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB16, PCDHB7, PCDHB8, PCDHB9
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)dgv958e201
Frequency
Sample Size96
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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