A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv537e201



Internal ID20125424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54743552..54785832hg38UCSC Ensembl
chr19:55255000..55297284hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3842281
hg1942285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718923, esv2718921
SamplesSSM065, SSM027, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM084, SSM099, SSM042, SSM088, SSM089, SSM090, SSM031, SSM072, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM050, SSM012, SSM093, SSM056, SSM017, SSM011, SSM029, SSM047, SSM034, SSM019, SSM052, SSM044, SSM004, SSM075, SSM026, SSM008, SSM081
Known GenesKIR2DL1, KIR2DL3
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)dgv537e201
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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