A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659230



Internal ID9578649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8133330..8134325hg38UCSC Ensembl
Outerchr4:8133173..8134478hg38UCSC Ensembl
Innerchr4:8135057..8136052hg19UCSC Ensembl
Outerchr4:8134900..8136205hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381306
hg191306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5774164
SamplesHG01365
Known GenesABLIM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659230
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