A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634619



Internal ID7021422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58038541..58044231hg38UCSC Ensembl
Innerchr14:58038541..58044231hg38UCSC Ensembl
Outerchr14:58038041..58044731hg38UCSC Ensembl
chr14:58505259..58510949hg19UCSC Ensembl
Innerchr14:58505259..58510949hg19UCSC Ensembl
Outerchr14:58504759..58511449hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg385691
hg195691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15024833, essv15024835, essv15024836, essv15024830, essv15024829, essv15024834, essv15024831, essv15024832
SamplesNA18745, NA18614, HG00583, NA18570, NA18559, HG01600, HG00472, NA18623
Known GenesC14orf37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634619
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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