A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632797



Internal ID7019608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78392726..78396822hg38UCSC Ensembl
Innerchr13:78392726..78396822hg38UCSC Ensembl
Outerchr13:78392469..78397062hg38UCSC Ensembl
chr13:78966861..78970957hg19UCSC Ensembl
Innerchr13:78966861..78970957hg19UCSC Ensembl
Outerchr13:78966604..78971197hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg384097
hg194097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14805302, essv14805300, essv14805303, essv14805301
SamplesHG01374, HG01605, NA20515, HG04161
Known GenesRNF219-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632797
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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