A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv38e201



Internal ID22759396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161558346..161653012hg38UCSC Ensembl
chr1:161528136..161622802hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3894667
hg1994667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741857, esv2741205, esv2718884, esv2741892, esv2740759, esv2742831, esv2742088, esv2740916, esv2741169, esv2741054, esv2742705
SamplesSSM100, SSM036, SSM071, SSM045, SSM079, SSM041, SSM057, SSM058, SSM061, SSM029, SSM089, SSM017, SSM031, SSM044, SSM014, SSM006, SSM072, SSM078, SSM005, SSM091, SSM052, SSM063
Known GenesFCGR2C, FCGR3B, HSPA7
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)dgv38e201
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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