A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv690e201



Internal ID22760048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10788662..10790624hg38UCSC Ensembl
chr21:10721833..10723795hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381963
hg191963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723099, esv2723101
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM069, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM016, SSM080, SSM037, SSM077, SSM076, SSM070, SSM095, SSM034, SSM099, SSM098
Known Genes
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)dgv690e201
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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