A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7814567



Internal ID14337285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6229149..6229150hg38UCSC Ensembl
Innerchr10:6229132..6229167hg38UCSC Ensembl
Outerchr10:6229131..6229168hg38UCSC Ensembl
chr10:6271112..6271113hg19UCSC Ensembl
Innerchr10:6271095..6271130hg19UCSC Ensembl
Outerchr10:6271094..6271131hg19UCSC Ensembl
chr10:6311118..6311119hg18UCSC Ensembl
Innerchr10:6311136..6311101hg18UCSC Ensembl
Outerchr10:6311100..6311137hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306994
Supporting Variants
SamplesNA18638
Known GenesPFKFB3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7814567
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