A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14935021



Internal ID4936837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22686795..22843098hg38UCSC Ensembl
Innerchr14:22686945..22842948hg38UCSC Ensembl
Outerchr14:22686645..22843248hg38UCSC Ensembl
chr14:23156004..23312307hg19UCSC Ensembl
Innerchr14:23156154..23312157hg19UCSC Ensembl
Outerchr14:23155854..23312457hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38156304
hg19156304
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633763
Supporting Variants
SamplesNA20759
Known GenesMMP14, MRPL52, OXA1L, SLC7A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14935021
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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