A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474596



Internal ID589857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46896687..46915973hg38UCSC Ensembl
Innerchr12:46896742..46915918hg38UCSC Ensembl
Outerchr12:46896632..46916028hg38UCSC Ensembl
chr12:47290470..47309756hg19UCSC Ensembl
Innerchr12:47290525..47309701hg19UCSC Ensembl
Outerchr12:47290415..47309811hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3819287
hg1919287
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629408
Supporting Variants
SamplesHG00258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474596
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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