A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv463e201



Internal ID22759821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75104504..75105526hg38UCSC Ensembl
chr18:72816460..72817482hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717365, esv2717361
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM097, SSM039, SSM074, SSM042, SSM023, SSM092, SSM084, SSM090, SSM069, SSM061, SSM029, SSM096, SSM026, SSM032, SSM031, SSM067, SSM044, SSM014, SSM085, SSM068, SSM072, SSM082, SSM020, SSM007, SSM037, SSM077, SSM022, SSM034, SSM099, SSM056, SSM063
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)dgv463e201
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer