A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308271



Internal ID14808533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91273364..91273365hg38UCSC Ensembl
Innerchr14:91273342..91273387hg38UCSC Ensembl
Outerchr14:91273341..91273388hg38UCSC Ensembl
chr14:91739708..91739709hg19UCSC Ensembl
Innerchr14:91739686..91739731hg19UCSC Ensembl
Outerchr14:91739685..91739732hg19UCSC Ensembl
chr14:90809461..90809462hg18UCSC Ensembl
Innerchr14:90809484..90809439hg18UCSC Ensembl
Outerchr14:90809438..90809485hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839175
SamplesNA19240
Known GenesCCDC88C
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308271
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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