A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672358



Internal ID15030242
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 Flag0
Merged StatusS
Merged Variantsesv3415116
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672358
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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