A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631670



Internal ID7018478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30207544..30210485hg38UCSC Ensembl
Innerchr13:30207555..30210475hg38UCSC Ensembl
Outerchr13:30207534..30210496hg38UCSC Ensembl
chr13:30781681..30784622hg19UCSC Ensembl
Innerchr13:30781692..30784612hg19UCSC Ensembl
Outerchr13:30781671..30784633hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14680802
SamplesHG01095
Known GenesKATNAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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