A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837987



Internal ID15138432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47360878..47360879hg38UCSC Ensembl
Innerchr12:47360717..47361040hg38UCSC Ensembl
Outerchr12:47360716..47361041hg38UCSC Ensembl
chr12:47754661..47754662hg19UCSC Ensembl
Innerchr12:47754500..47754823hg19UCSC Ensembl
Outerchr12:47754499..47754824hg19UCSC Ensembl
chr12:46040928..46040929hg18UCSC Ensembl
Innerchr12:46041090..46040767hg18UCSC Ensembl
Outerchr12:46040766..46041091hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38154
hg19154
hg18154
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310363
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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