A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1000e201



Internal ID20125887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33086265..33140173hg38UCSC Ensembl
chr6:33054042..33107950hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3853909
hg1953909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2731883, esv2731880
SamplesSSM027, SSM082, SSM086, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM031, SSM035, SSM025, SSM072, SSM071, SSM057, SSM001, SSM032, SSM039, SSM097, SSM041, SSM077, SSM062, SSM100, SSM009, SSM066, SSM029, SSM003, SSM069, SSM037, SSM034, SSM087, SSM038, SSM019, SSM096, SSM023, SSM044, SSM074, SSM075, SSM026, SSM008, SSM076, SSM058, SSM059, SSM081, SSM080
Known GenesHLA-DPB1, HLA-DPB2
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)dgv1000e201
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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