A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657447



Internal ID9576866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:122900205..122900358hg38UCSC Ensembl
chr4:123821360..123821513hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6450262, essv6018548, essv5824617, essv6345160, essv5538617, essv6431193, essv6436712, essv6366439, essv6043731, essv5874082, essv5929272, essv5746252
SamplesNA19394, NA19359, NA19374, NA19381, NA19384, NA19404, NA19371, NA19385, NA19403, NA19391, HG01107, NA19401
Known GenesNUDT6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657447
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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