A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6508834



Internal ID9742225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130413180..130414060hg38UCSC Ensembl
chr3:130132024..130132904hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662769
Supporting Variants
SamplesNA19678
Known GenesCOL6A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6508834
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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