A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14957511



Internal ID2994359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32484064..32485158hg38UCSC Ensembl
Innerchr14:32484158..32485108hg38UCSC Ensembl
Outerchr14:32483814..32485408hg38UCSC Ensembl
chr14:32953270..32954364hg19UCSC Ensembl
Innerchr14:32953364..32954314hg19UCSC Ensembl
Outerchr14:32953020..32954614hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633987
Supporting Variants
SamplesHG02645
Known GenesAKAP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14957511
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