A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634678



Internal ID6674795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60985790..60988405hg38UCSC Ensembl
Innerchr14:60985790..60988405hg38UCSC Ensembl
Outerchr14:60985543..60988618hg38UCSC Ensembl
chr14:61452508..61455123hg19UCSC Ensembl
Innerchr14:61452508..61455123hg19UCSC Ensembl
Outerchr14:61452261..61455336hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382616
hg192616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15035933
SamplesNA19003
Known GenesSLC38A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634678
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