A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674265



Internal ID9940370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151451167..151453540hg38UCSC Ensembl
chr1:151423643..151426016hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382374
hg192374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5754121, essv6043959, essv5395762, essv5873713, essv6130511, essv6259900, essv6269591, essv5816039
SamplesHG01462, HG00640, HG01366, HG01365, HG00512, HG01069, HG00692, NA18622
Known GenesPOGZ
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674265
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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