A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14881016



Internal ID5825366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102946677..102951194hg38UCSC Ensembl
Innerchr13:102946680..102951191hg38UCSC Ensembl
Outerchr13:102946674..102951197hg38UCSC Ensembl
chr13:103599027..103603544hg19UCSC Ensembl
Innerchr13:103599030..103603541hg19UCSC Ensembl
Outerchr13:103599024..103603547hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384518
hg194518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633386
Supporting Variants
SamplesNA19201
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14881016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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