A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14886428



Internal ID1896949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:104583399..104586400hg38UCSC Ensembl
Innerchr13:104583403..104586396hg38UCSC Ensembl
Outerchr13:104583395..104586404hg38UCSC Ensembl
chr13:105235750..105238751hg19UCSC Ensembl
Innerchr13:105235754..105238747hg19UCSC Ensembl
Outerchr13:105235746..105238755hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633428
Supporting Variants
SamplesHG01783
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14886428
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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