A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851441



Internal ID10249779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:42181841..42181998hg38UCSC Ensembl
Outerchr13:42755977..42756134hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747312, esv2747311
Supporting Variants
SamplesSSM086
Known GenesDGKH
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)essv6851441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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