A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5711502



Internal ID8816494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196222463..196224374hg38UCSC Ensembl
Outerchr3:196222306..196224527hg38UCSC Ensembl
Innerchr3:195949334..195951245hg19UCSC Ensembl
Outerchr3:195949177..195951398hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382222
hg192222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668764
Supporting Variants
SamplesHG00259
Known GenesSLC51A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5711502
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