A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677426



Internal ID9596845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41225545..41230223hg38UCSC Ensembl
chr4:41227562..41232240hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg384679
hg194679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6487042, essv5474243
SamplesNA12058, NA20786
Known GenesUCHL1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677426
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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