A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15013999



Internal ID5015815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52559500..52564925hg38UCSC Ensembl
Innerchr14:52559502..52564923hg38UCSC Ensembl
Outerchr14:52559498..52564927hg38UCSC Ensembl
chr14:53026218..53031643hg19UCSC Ensembl
Innerchr14:53026220..53031641hg19UCSC Ensembl
Outerchr14:53026216..53031645hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385426
hg195426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634524
Supporting Variants
SamplesHG01868
Known GenesGPR137C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15013999
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