A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052687



Internal ID5852358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70579078..70583507hg38UCSC Ensembl
Innerchr14:70579084..70583502hg38UCSC Ensembl
Outerchr14:70579073..70583513hg38UCSC Ensembl
chr14:71045795..71050224hg19UCSC Ensembl
Innerchr14:71045801..71050219hg19UCSC Ensembl
Outerchr14:71045790..71050230hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384430
hg194430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634863
Supporting Variants
SamplesNA19225
Known GenesMED6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052687
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