A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787256



Internal ID14074425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32784979..32784980hg38UCSC Ensembl
Innerchr14:32784962..32784997hg38UCSC Ensembl
Outerchr14:32784961..32784998hg38UCSC Ensembl
chr14:33254185..33254186hg19UCSC Ensembl
Innerchr14:33254168..33254203hg19UCSC Ensembl
Outerchr14:33254167..33254204hg19UCSC Ensembl
chr14:32323936..32323937hg18UCSC Ensembl
Innerchr14:32323954..32323919hg18UCSC Ensembl
Outerchr14:32323918..32323955hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305271
Supporting Variants
SamplesNA18561
Known GenesAKAP6
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787256
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer