A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710907



Internal ID4188365
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631956
Supporting Variants
SamplesHG03779
Known GenesSLC25A30, TPT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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