A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372224



Internal ID14872483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48247022..48247468hg38UCSC Ensembl
Innerchr16:48247029..48247461hg38UCSC Ensembl
Outerchr16:48247015..48247475hg38UCSC Ensembl
chr16:48280933..48281379hg19UCSC Ensembl
Innerchr16:48280940..48281372hg19UCSC Ensembl
Outerchr16:48280926..48281386hg19UCSC Ensembl
chr16:46838434..46838880hg18UCSC Ensembl
Innerchr16:46838441..46838873hg18UCSC Ensembl
Outerchr16:46838427..46838887hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38447
hg19447
hg18447
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670737, essv8670736, essv8670739, essv8670734, essv8670738, essv8670735
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372224
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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