A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14961901



Internal ID4277366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33791571..33810912hg38UCSC Ensembl
chr14:34260777..34280118hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3819342
hg1919342
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634014
Supporting Variants
SamplesHG03844
Known GenesNPAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14961901
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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