A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12621271



Internal ID2623087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162380230..162418588hg38UCSC Ensembl
chr6:162801262..162839620hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3838359
hg1938359
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611530
Supporting Variants
SamplesHG01323
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12621271
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