A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785916



Internal ID9844121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69174460..69339512hg38UCSC Ensembl
Outerchr4:70040178..70205230hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38165053
hg19165053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727780, esv2727778
Supporting Variants
SamplesSSM069
Known GenesUGT2B11, UGT2B28
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)essv6785916
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