A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661110



Internal ID9580529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399630..231410291hg38UCSC Ensembl
chr1:231535376..231546037hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810662
hg1910662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6559456, essv5591795, essv5728058, essv5657384, essv5772104, essv5808849, essv6489622, essv5904784, essv6473617, essv5471193, essv6232512, essv5490700, essv6505881
SamplesHG00565, NA19072, HG00614, HG00635, NA18566, NA18536, NA18942, HG00525, NA18538, HG00654, NA18614, HG00656, HG00671
Known GenesEGLN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661110
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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