A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631956



Internal ID7018766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45391109..45405451hg38UCSC Ensembl
Innerchr13:45391609..45404951hg38UCSC Ensembl
Outerchr13:45390109..45406451hg38UCSC Ensembl
chr13:45965244..45979586hg19UCSC Ensembl
Innerchr13:45965744..45979086hg19UCSC Ensembl
Outerchr13:45964244..45980586hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3814343
hg1914343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710908, essv14710907
SamplesHG03779, HG04098
Known GenesSLC25A30, TPT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631956
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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