A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307470



Internal ID15154418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47918692..47918693hg38UCSC Ensembl
Innerchr12:47918670..47918715hg38UCSC Ensembl
Outerchr12:47918669..47918716hg38UCSC Ensembl
chr12:48312475..48312476hg19UCSC Ensembl
Innerchr12:48312453..48312498hg19UCSC Ensembl
Outerchr12:48312452..48312499hg19UCSC Ensembl
chr12:46598742..46598743hg18UCSC Ensembl
Innerchr12:46598765..46598720hg18UCSC Ensembl
Outerchr12:46598719..46598766hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7766863, essv7764008, essv7767239, essv7768927, essv7768317, essv7765736, essv7767650
SamplesNA11931, NA11918, NA12287, NA12815, NA12872, NA12043, NA11881
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307470
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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