A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15036000



Internal ID6206372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61039808..61050551hg38UCSC Ensembl
chr14:61506526..61517269hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3810744
hg1910744
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634680
Supporting Variants
SamplesNA19732
Known GenesSLC38A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15036000
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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