A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14822355



Internal ID2744670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:83720838..83722255hg38UCSC Ensembl
Innerchr13:83720838..83722255hg38UCSC Ensembl
Outerchr13:83720628..83722475hg38UCSC Ensembl
chr13:84294973..84296390hg19UCSC Ensembl
Innerchr13:84294973..84296390hg19UCSC Ensembl
Outerchr13:84294763..84296610hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632926
Supporting Variants
SamplesHG02409
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14822355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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