A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631947



Internal ID7018757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45180918..45185466hg38UCSC Ensembl
Innerchr13:45180918..45185466hg38UCSC Ensembl
Outerchr13:45180651..45185802hg38UCSC Ensembl
chr13:45755053..45759601hg19UCSC Ensembl
Innerchr13:45755053..45759601hg19UCSC Ensembl
Outerchr13:45754786..45759937hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg384549
hg194549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14710752, essv14710749, essv14710750, essv14710760, essv14710761, essv14710764, essv14710757, essv14710758, essv14710755, essv14710762, essv14710759, essv14710751, essv14710754, essv14710753, essv14710763, essv14710756
SamplesHG02318, NA20298, HG03133, HG03436, HG02541, HG03342, HG03105, NA19038, NA19385, NA19027, HG02878, NA19320, HG02557, HG03461, HG02558, HG03112
Known GenesGTF2F2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631947
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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