A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv741e201



Internal ID22760099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46630540..46632239hg38UCSC Ensembl
chr22:47026437..47028136hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2724445, esv2724442
SamplesSSM100, SSM036, SSM083, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM087, SSM039, SSM009, SSM042, SSM088, SSM057, SSM023, SSM058, SSM028, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM072, SSM082, SSM078, SSM053, SSM080, SSM077, SSM076, SSM070, SSM043, SSM052, SSM098, SSM056, SSM012
Known GenesGRAMD4
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)dgv741e201
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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