A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428761



Internal ID15275717
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 Flag
Merged StatusM
Merged Variantsdgv736e59
Supporting Variantsessv8688661
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428761
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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