A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347306



Internal ID15194288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52419890..52419909hg38UCSC Ensembl
Innerchr12:52419886..52419913hg38UCSC Ensembl
Outerchr12:52419867..52419932hg38UCSC Ensembl
chr12:52813674..52813693hg19UCSC Ensembl
Innerchr12:52813670..52813697hg19UCSC Ensembl
Outerchr12:52813651..52813716hg19UCSC Ensembl
chr12:51099941..51099960hg18UCSC Ensembl
Innerchr12:51099964..51099937hg18UCSC Ensembl
Outerchr12:51099918..51099983hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9657580, essv9657569, essv9657558, essv9657546
SamplesNA12287, NA12815, NA12872, NA12873
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347306
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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