A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12238821



Internal ID2240637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27764937..27799919hg38UCSC Ensembl
chr6:27732716..27767697hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3834983
hg1934982
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608439
Supporting Variants
SamplesHG01441
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12238821
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer