A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14951784



Internal ID4261653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29805592..29811617hg38UCSC Ensembl
Innerchr14:29805611..29811598hg38UCSC Ensembl
Outerchr14:29805573..29811636hg38UCSC Ensembl
chr14:30274798..30280823hg19UCSC Ensembl
Innerchr14:30274817..30280804hg19UCSC Ensembl
Outerchr14:30274779..30280842hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386026
hg196026
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633934
Supporting Variants
SamplesHG03830
Known GenesPRKD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14951784
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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