A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336861



Internal ID14837132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121254822..121255477hg38UCSC Ensembl
Innerchr12:121254822..121255477hg38UCSC Ensembl
Outerchr12:121254737..121255489hg38UCSC Ensembl
chr12:121692625..121693280hg19UCSC Ensembl
Innerchr12:121692625..121693280hg19UCSC Ensembl
Outerchr12:121692540..121693292hg19UCSC Ensembl
chr12:120177008..120177663hg18UCSC Ensembl
Innerchr12:120177008..120177663hg18UCSC Ensembl
Outerchr12:120176923..120177675hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38656
hg19656
hg18656
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651845
SamplesNA19240
Known GenesCAMKK2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336861
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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