A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411246



Internal ID14911520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106960848..106960867hg38UCSC Ensembl
Innerchr12:106960844..106960871hg38UCSC Ensembl
Outerchr12:106960825..106960890hg38UCSC Ensembl
chr12:107354626..107354645hg19UCSC Ensembl
Innerchr12:107354622..107354649hg19UCSC Ensembl
Outerchr12:107354603..107354668hg19UCSC Ensembl
chr12:105878756..105878775hg18UCSC Ensembl
Innerchr12:105878779..105878752hg18UCSC Ensembl
Outerchr12:105878733..105878798hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9659613
SamplesNA12814
Known GenesC12orf23
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411246
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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