A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637574



Internal ID7024366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:427856..430795hg38UCSC Ensembl
Innerchr16:427861..430790hg38UCSC Ensembl
Outerchr16:427851..430800hg38UCSC Ensembl
chr16:477856..480795hg19UCSC Ensembl
Innerchr16:477861..480790hg19UCSC Ensembl
Outerchr16:477851..480800hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382940
hg192940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355313, essv15355318, essv15355311, essv15355315, essv15355316, essv15355319, essv15355321, essv15355322, essv15355317, essv15355314, essv15355323, essv15355320, essv15355312
SamplesNA19701, HG03449, HG03199, NA19131, HG03342, NA19130, NA19391, HG02450, HG02881, NA18853, HG02941, HG03473, HG02558
Known GenesRAB11FIP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637574
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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