A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633966



Internal ID7020770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31293032..31297542hg38UCSC Ensembl
Innerchr14:31293072..31297502hg38UCSC Ensembl
Outerchr14:31292992..31297582hg38UCSC Ensembl
chr14:31762238..31766748hg19UCSC Ensembl
Innerchr14:31762278..31766708hg19UCSC Ensembl
Outerchr14:31762198..31766788hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14955018
SamplesHG03867
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633966
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