A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6677377



Internal ID9647415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:173068861..173071798hg38UCSC Ensembl
Outerchr5:172495864..172498801hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382938
hg192938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731109
Supporting Variants
SamplesSSM005
Known GenesCREBRF
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)essv6677377
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