A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432355



Internal ID15279311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360914..47361018hg38UCSC Ensembl
Innerchr12:47360915..47361015hg38UCSC Ensembl
Outerchr12:47360811..47361119hg38UCSC Ensembl
chr12:47754697..47754801hg19UCSC Ensembl
Innerchr12:47754698..47754798hg19UCSC Ensembl
Outerchr12:47754594..47754902hg19UCSC Ensembl
chr12:46040964..46041068hg18UCSC Ensembl
Innerchr12:46041065..46040965hg18UCSC Ensembl
Outerchr12:46040861..46041169hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38154
hg19154
hg18154
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672374
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432355
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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