A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633711



Internal ID6673831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21338022..21348666hg38UCSC Ensembl
chr14:21806181..21816825hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810645
hg1910645
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14928156
SamplesNA19060
Known GenesRPGRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633711
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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