A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524e201



Internal ID20125411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42863816..43280849hg38UCSC Ensembl
chr19:43367968..43785001hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38417034
hg19417034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718599, esv2718601
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesLOC284344, PSG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
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)dgv524e201
Frequency
Sample Size96
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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