A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664290



Internal ID9930395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:14680043..14682022hg38UCSC Ensembl
chr4:14681667..14683646hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5520082, essv5902562, essv5721360, essv6484507, essv6064160, essv6341804
SamplesHG01441, HG01083, HG01080, HG00246, HG00734, HG00116
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664290
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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