A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14680802



Internal ID1237150
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631670
Supporting Variants
SamplesHG01095
Known GenesKATNAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14680802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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