A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667073



Internal ID9586492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169668500..169668660hg38UCSC Ensembl
chr1:169637738..169637898hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5482430, essv6288221, essv5571657, essv6531107, essv5454687, essv6094784, essv5941382, essv5598764
SamplesHG00327, HG00251, HG01351, HG00232, HG01171, HG00282, HG00246, HG01082
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667073
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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