A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv917e201



Internal ID20125804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1273150..1273736hg38UCSC Ensembl
chr5:1273265..1273851hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2729462, esv2729459
SamplesSSM022, SSM007, SSM013, SSM086, SSM006, SSM036, SSM055, SSM084, SSM042, SSM043, SSM088, SSM089, SSM090, SSM016, SSM001, SSM032, SSM039, SSM067, SSM094, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM017, SSM011, SSM003, SSM095, SSM047, SSM002, SSM034, SSM087, SSM046, SSM019, SSM096, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM008, SSM098, SSM018, SSM076, SSM059, SSM081, SSM070, SSM080
Known GenesTERT
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)dgv917e201
Frequency
Sample Size96
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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