A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415116



Internal ID15262075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41987269..41987282hg38UCSC Ensembl
Innerchr12:41987264..41987287hg38UCSC Ensembl
Outerchr12:41987251..41987300hg38UCSC Ensembl
chr12:42381071..42381084hg19UCSC Ensembl
Innerchr12:42381066..42381089hg19UCSC Ensembl
Outerchr12:42381053..42381102hg19UCSC Ensembl
chr12:40667338..40667351hg18UCSC Ensembl
Innerchr12:40667356..40667333hg18UCSC Ensembl
Outerchr12:40667320..40667369hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381601
hg191601
hg181601
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672358, essv8672357
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415116
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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