A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1014e201



Internal ID18984653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117923475..117924803hg38UCSC Ensembl
chr6:118244638..118245966hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2732619, esv2732616
SamplesSSM010, SSM022, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM084, SSM099, SSM042, SSM078, SSM088, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM024, SSM067, SSM083, SSM050, SSM062, SSM093, SSM056, SSM009, SSM066, SSM028, SSM029, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM019, SSM079, SSM052, SSM044, SSM015, SSM026, SSM014, SSM049, SSM008, SSM058, SSM059, SSM081
Known GenesSLC35F1
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)dgv1014e201
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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