A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3425811



Internal ID15272768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65636155..65636159hg38UCSC Ensembl
Innerchr5:65636157..65636157hg38UCSC Ensembl
Outerchr5:65636153..65636161hg38UCSC Ensembl
chr5:64931982..64931986hg19UCSC Ensembl
Innerchr5:64931984..64931984hg19UCSC Ensembl
Outerchr5:64931980..64931988hg19UCSC Ensembl
chr5:64967738..64967742hg18UCSC Ensembl
Innerchr5:64967740..64967740hg18UCSC Ensembl
Outerchr5:64967736..64967744hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864462
SamplesNA12005
Known GenesTRAPPC13
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3425811
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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