A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv511e201



Internal ID18984150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21567823..23250023hg38UCSC Ensembl
chr19:21750625..23432825hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg381682201
hg191682201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718337, esv2718342
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesLOC100996349, LOC440518, LOC641367, ZNF100, ZNF208, ZNF257, ZNF43, ZNF492, ZNF676, ZNF724P, ZNF728, ZNF729, ZNF730, ZNF98, ZNF99
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)dgv511e201
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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