A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8813654



Internal ID13292133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22086357..22086357hg38UCSC Ensembl
Innerchr12:22086356..22086358hg38UCSC Ensembl
Outerchr12:22086297..22086407hg38UCSC Ensembl
chr12:22239291..22239291hg19UCSC Ensembl
Innerchr12:22239290..22239292hg19UCSC Ensembl
Outerchr12:22239231..22239341hg19UCSC Ensembl
chr12:22130558..22130558hg18UCSC Ensembl
Innerchr12:22130559..22130557hg18UCSC Ensembl
Outerchr12:22130498..22130608hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3350072
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8813654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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