A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633710



Internal ID6673830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21317904..21327227hg38UCSC Ensembl
Innerchr14:21317904..21327227hg38UCSC Ensembl
Outerchr14:21317749..21327434hg38UCSC Ensembl
chr14:21786063..21795386hg19UCSC Ensembl
Innerchr14:21786063..21795386hg19UCSC Ensembl
Outerchr14:21785908..21795593hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg389324
hg199324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14928155
SamplesNA18622
Known GenesRPGRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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