A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114737



Internal ID5116553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104564498..104735876hg38UCSC Ensembl
chr14:105030835..105202213hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38171379
hg19171379
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635623
Supporting Variants
SamplesNA06984
Known GenesADSSL1, C14orf180, INF2, MIR4710, TMEM179
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114737
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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