A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664329



Internal ID9930434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70727870..70728115hg38UCSC Ensembl
Outerchr12:70727833..70728165hg38UCSC Ensembl
Innerchr12:71121650..71121895hg19UCSC Ensembl
Outerchr12:71121613..71121945hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6591057
SamplesHG00252
Known GenesPTPRR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664329
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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