A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv530e201



Internal ID20125417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53366586..53470182hg38UCSC Ensembl
chr19:53869839..53973436hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38103597
hg19103598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718822, esv2718820, esv2718817
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM050, SSM074, SSM042, SSM002, SSM057, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM044, SSM001, SSM086, SSM033, SSM085, SSM040, SSM082, SSM020, SSM007, SSM015, SSM016, SSM053, SSM005, SSM080, SSM076, SSM022, SSM010, SSM055, SSM025, SSM004, SSM043, SSM056, SSM030
Known GenesTPM3P9, ZNF525, ZNF761, ZNF765, ZNF813
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)dgv530e201
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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