A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv178e201



Internal ID20125065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24307462..24307743hg38UCSC Ensembl
chr12:24460396..24460677hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745646, esv2745645
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM032, SSM039, SSM067, SSM029, SSM069, SSM087, SSM038, SSM026, SSM014
Known GenesSOX5
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)dgv178e201
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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