A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632069



Internal ID7018879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50690657..50693627hg38UCSC Ensembl
Innerchr13:50690657..50693627hg38UCSC Ensembl
Outerchr13:50690599..50693681hg38UCSC Ensembl
chr13:51264793..51267763hg19UCSC Ensembl
Innerchr13:51264793..51267763hg19UCSC Ensembl
Outerchr13:51264735..51267817hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382971
hg192971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14729073, essv14729074
SamplesHG00120, NA20760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632069
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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