A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15111718



Internal ID5113534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102931859..103104526hg38UCSC Ensembl
chr14:103398196..103570863hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38172668
hg19172668
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635574
Supporting Variants
SamplesNA06984
Known GenesCDC42BPB, EXOC3L4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15111718
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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