A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7764008



Internal ID13336699
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 StatusS
Merged Variantsesv3307470
Supporting Variants
SamplesNA12043
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7764008
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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