A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15077006



Internal ID5078822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80712926..80846042hg38UCSC Ensembl
chr14:81179270..81312386hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38133117
hg19133117
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635075
Supporting Variants
SamplesNA06984
Known GenesCEP128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15077006
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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