A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12088158



Internal ID6077484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146412870..146413852hg38UCSC Ensembl
Innerchr5:146412871..146413852hg38UCSC Ensembl
Outerchr5:146412870..146413853hg38UCSC Ensembl
chr5:145792433..145793415hg19UCSC Ensembl
Innerchr5:145792434..145793415hg19UCSC Ensembl
Outerchr5:145792433..145793416hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38983
hg19983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607074
Supporting Variants
SamplesNA19463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12088158
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