A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631455



Internal ID7018264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:21168192..21172357hg38UCSC Ensembl
Innerchr13:21168192..21172357hg38UCSC Ensembl
Outerchr13:21168085..21172440hg38UCSC Ensembl
chr13:21742331..21746496hg19UCSC Ensembl
Innerchr13:21742331..21746496hg19UCSC Ensembl
Outerchr13:21742224..21746579hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg384166
hg194166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14659302, essv14659303, essv14659307, essv14659304, essv14659306, essv14659305
SamplesHG01985, HG02374, NA19917, HG00338, HG01765, HG01794
Known GenesSKA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631455
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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