A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv428e201



Internal ID20125315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78509054..78509321hg38UCSC Ensembl
chr17:76505136..76505403hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741923, esv2742372
SamplesSSM072, SSM087
Known GenesDNAH17
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)dgv428e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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