A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9657469



Internal ID13190862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47918697..47918716hg38UCSC Ensembl
Innerchr12:47918693..47918720hg38UCSC Ensembl
Outerchr12:47918674..47918739hg38UCSC Ensembl
chr12:48312480..48312499hg19UCSC Ensembl
Innerchr12:48312476..48312503hg19UCSC Ensembl
Outerchr12:48312457..48312522hg19UCSC Ensembl
chr12:46598747..46598766hg18UCSC Ensembl
Innerchr12:46598770..46598743hg18UCSC Ensembl
Outerchr12:46598724..46598789hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438919
Supporting Variants
SamplesNA11918
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9657469
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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