A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1034e201



Internal ID18984673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167203951..167318561hg38UCSC Ensembl
chr6:167617439..167732049hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38114611
hg19114611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2733224, esv2733226
SamplesSSM010, SSM007, SSM027, SSM092, SSM013, SSM091, SSM061, SSM099, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM072, SSM071, SSM057, SSM032, SSM067, SSM094, SSM083, SSM012, SSM085, SSM009, SSM066, SSM029, SSM095, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM096, SSM079, SSM052, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM049, SSM018, SSM076, SSM081, SSM070
Known GenesUNC93A
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)dgv1034e201
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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