A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631888



Internal ID7018697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42068228..42073595hg38UCSC Ensembl
Innerchr13:42068378..42073445hg38UCSC Ensembl
Outerchr13:42068078..42073745hg38UCSC Ensembl
chr13:42642364..42647731hg19UCSC Ensembl
Innerchr13:42642514..42647581hg19UCSC Ensembl
Outerchr13:42642214..42647881hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14706622
SamplesNA19172
Known GenesDGKH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631888
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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