A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658797



Internal ID9578216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88027321..88028482hg38UCSC Ensembl
chr4:88948473..88949634hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381162
hg191162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556563
SamplesNA19190
Known GenesPKD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658797
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