A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv993e201



Internal ID18984632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29890781..30009755hg38UCSC Ensembl
chr6:29858558..29977532hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38118975
hg19118975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743155, esv2731776, esv2742320, esv2743074, esv2741386, esv2740986, esv2741537, esv2742919, esv2740739, esv2741865, esv2742014
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM004, SSM075, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM081, SSM070, SSM080
Known GenesHCG4B, HCG9, HLA-A, HLA-H, HLA-J, ZNRD1-AS1
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)dgv993e201
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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