A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665416



Internal ID9931521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166187792..166192826hg38UCSC Ensembl
chr4:167108944..167113978hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385035
hg195035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5772583, essv5850703, essv6425201, essv5865669, essv5622833, essv5724761, essv6518593, essv5710762, essv6150715, essv5951404, essv6283999
SamplesNA12399, HG00346, HG00262, HG00182, HG00323, HG00282, NA12342, HG00336, HG00278, HG00267, HG01378
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665416
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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