A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667379



Internal ID9933484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:22494085..22495789hg38UCSC Ensembl
chr4:22495708..22497412hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5764715, essv5552870, essv6233935
SamplesNA19701, NA19909, HG01365
Known GenesGPR125
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667379
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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