A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114745



Internal ID5116561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104741717..104883507hg38UCSC Ensembl
chr14:105208054..105349844hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38141791
hg19141791
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635627
Supporting Variants
SamplesNA06984
Known GenesADSSL1, AKT1, CEP170B, LINC00638, SIVA1, ZBTB42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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