A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1017e201



Internal ID20125904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136278763..136282580hg38UCSC Ensembl
chr6:136599901..136603718hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg383818
hg193818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2732759, esv2732755, esv2732757
SamplesSSM100, SSM083, SSM071, SSM024, SSM045, SSM046, SSM087, SSM039, SSM013, SSM073, SSM093, SSM074, SSM023, SSM058, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM096, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM044, SSM086, SSM066, SSM006, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM077, SSM022, SSM010, SSM091, SSM070, SSM095, SSM025, SSM004, SSM098
Known GenesBCLAF1
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)dgv1017e201
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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