A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635249



Internal ID7022048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:87134119..87134558hg38UCSC Ensembl
Innerchr14:87134120..87134557hg38UCSC Ensembl
Outerchr14:87134118..87134559hg38UCSC Ensembl
chr14:87600463..87600902hg19UCSC Ensembl
Innerchr14:87600464..87600901hg19UCSC Ensembl
Outerchr14:87600462..87600903hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15092053, essv15092052, essv15092056, essv15092055, essv15092057, essv15092054
SamplesHG02562, HG01133, HG01709, NA12873, HG03259, NA12776
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635249
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer