A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842233



Internal ID9894805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132190948..132191390hg38UCSC Ensembl
Outerchr10:134004452..134004894hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743631, esv2743629
Supporting Variants
SamplesSSM084
Known GenesDPYSL4
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)essv6842233
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