A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663866



Internal ID9583285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134967891..134969819hg38UCSC Ensembl
chr3:134686733..134688661hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381929
hg191929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5557267
SamplesNA19435
Known GenesEPHB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663866
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