A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667516



Internal ID9586935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201307254..201312182hg38UCSC Ensembl
Outerchr1:201307217..201312232hg38UCSC Ensembl
Innerchr1:201276382..201281310hg19UCSC Ensembl
Outerchr1:201276345..201281360hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385016
hg195016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5465006
SamplesHG01188
Known GenesPKP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667516
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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