A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12120143



Internal ID4079344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162221246..162267867hg38UCSC Ensembl
Innerchr5:162221246..162267867hg38UCSC Ensembl
Outerchr5:162220746..162268367hg38UCSC Ensembl
chr5:161648252..161694873hg19UCSC Ensembl
Innerchr5:161648252..161694873hg19UCSC Ensembl
Outerchr5:161647752..161695373hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3846622
hg1946622
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607425
Supporting Variants
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12120143
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