A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658320



Internal ID9924425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:21452890..21454042hg38UCSC Ensembl
Outerchr14:21452853..21454092hg38UCSC Ensembl
Innerchr14:21921049..21922201hg19UCSC Ensembl
Outerchr14:21921012..21922251hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5730108, essv5955093, essv6351347
SamplesNA19908, NA19818, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658320
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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