A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13253697



Internal ID5457560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90132496..90173531hg38UCSC Ensembl
chr8:91144724..91185759hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3841036
hg1941036
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617990
Supporting Variants
SamplesNA18968
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13253697
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