A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv534e201



Internal ID20125421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54725944..54826813hg38UCSC Ensembl
chr19:55237410..55338268hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38100870
hg19100859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718924, esv2718922, esv2718911
SamplesSSM010, SSM065, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM078, SSM043, SSM088, SSM089, SSM090, 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, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM023, SSM052, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM008, SSM098, SSM018, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR3DL1, 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)dgv534e201
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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