A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1106e201



Internal ID20125993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100991190..101003296hg38UCSC Ensembl
chr7:100634471..100646577hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3812107
hg1912107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2734908, esv2734912, esv2734910
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM064, SSM079, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM082, SSM007, SSM078, SSM016, SSM053, SSM037, SSM076, SSM010, SSM091, SSM055, SSM095, SSM025, SSM052, SSM098, SSM049, SSM056, SSM063, SSM012
Known GenesMUC12
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)dgv1106e201
Frequency
Sample Size96
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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