A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv536e201



Internal ID20125423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54736183..54859699hg38UCSC Ensembl
chr19:55247650..55371154hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38123517
hg19123505
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718926, esv2718913, esv2718920
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM001, SSM032, SSM024, SSM045, SSM067, SSM094, SSM050, SSM041, SSM062, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM073, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM023, SSM052, SSM044, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
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)dgv536e201
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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