A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348178



Internal ID14848443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144001176..144001187hg38UCSC Ensembl
Innerchr6:144001155..144001208hg38UCSC Ensembl
Outerchr6:144001144..144001219hg38UCSC Ensembl
chr6:144322313..144322324hg19UCSC Ensembl
Innerchr6:144322292..144322345hg19UCSC Ensembl
Outerchr6:144322281..144322356hg19UCSC Ensembl
chr6:144364006..144364017hg18UCSC Ensembl
Innerchr6:144364038..144363985hg18UCSC Ensembl
Outerchr6:144363974..144364049hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864661
SamplesNA12005
Known GenesPLAGL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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