A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633763



Internal ID6673883
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14935021
SamplesNA20759
Known GenesMMP14, MRPL52, OXA1L, SLC7A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633763
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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