A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631957



Internal ID7018767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45413790..45431769hg38UCSC Ensembl
Innerchr13:45413790..45431769hg38UCSC Ensembl
Outerchr13:45413671..45431815hg38UCSC Ensembl
chr13:45987925..46005904hg19UCSC Ensembl
Innerchr13:45987925..46005904hg19UCSC Ensembl
Outerchr13:45987806..46005950hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3817980
hg1917980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710910, essv14710912, essv14710913, essv14710914, essv14710911, essv14710915, essv14710916, essv14710909
SamplesHG03593, HG02784, HG03793, HG03888, HG04020, HG03969, HG04006, HG03815
Known GenesSLC25A30
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631957
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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