A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12087937



Internal ID2722018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146309739..146311105hg38UCSC Ensembl
Innerchr5:146309889..146310955hg38UCSC Ensembl
Outerchr5:146309589..146311255hg38UCSC Ensembl
chr5:145689302..145690668hg19UCSC Ensembl
Innerchr5:145689452..145690518hg19UCSC Ensembl
Outerchr5:145689152..145690818hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381367
hg191367
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607071
Supporting Variants
SamplesHG02397
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12087937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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