A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002519



Internal ID1882952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:44546399..44641480hg38UCSC Ensembl
chr14:45015602..45110683hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3895082
hg1995082
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634333
Supporting Variants
SamplesHG01775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002519
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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