A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658987



Internal ID9925092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:25142400..25144320hg38UCSC Ensembl
Outerchr14:25142243..25144473hg38UCSC Ensembl
Innerchr14:25611606..25613526hg19UCSC Ensembl
Outerchr14:25611449..25613679hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382231
hg192231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5478956, essv6369821, essv6490850, essv6283476, essv5459302, essv5499717, essv6027355, essv6406580, essv5996346
SamplesHG00257, HG00689, HG01067, HG01353, NA18543, HG00125, NA19818, HG00478, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658987
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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