A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12626187



Internal ID5701148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:164327048..164408560hg38UCSC Ensembl
chr6:164748081..164829593hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3881513
hg1981513
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611595
Supporting Variants
SamplesNA19089
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12626187
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