A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14956547



Internal ID3319633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32403125..32409297hg38UCSC Ensembl
Innerchr14:32403125..32409297hg38UCSC Ensembl
Outerchr14:32402878..32409516hg38UCSC Ensembl
chr14:32872331..32878503hg19UCSC Ensembl
Innerchr14:32872331..32878503hg19UCSC Ensembl
Outerchr14:32872084..32878722hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg386173
hg196173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633984
Supporting Variants
SamplesHG02968
Known GenesAKAP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14956547
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