A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126286



Internal ID3493600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167396376..167402806hg38UCSC Ensembl
Innerchr5:167396396..167402786hg38UCSC Ensembl
Outerchr5:167396356..167402826hg38UCSC Ensembl
chr5:166823381..166829811hg19UCSC Ensembl
Innerchr5:166823401..166829791hg19UCSC Ensembl
Outerchr5:166823361..166829831hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg386431
hg196431
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607520
Supporting Variants
SamplesHG03103
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126286
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