A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688661



Internal ID15045825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45001..60823hg38UCSC Ensembl
Innerchr12:45001..59823hg38UCSC Ensembl
Outerchr12:45001..61823hg38UCSC Ensembl
chr12:151291..169989hg19UCSC Ensembl
Innerchr12:152291..168989hg19UCSC Ensembl
Outerchr12:150291..170989hg19UCSC Ensembl
chr12:21552..40250hg18UCSC Ensembl
Innerchr12:22552..39250hg18UCSC Ensembl
Outerchr12:20552..41250hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3815823
hg1918699
hg1818699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3428761
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688661
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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