A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633493



Internal ID7020302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:107791679..107796233hg38UCSC Ensembl
Innerchr13:107791679..107796233hg38UCSC Ensembl
Outerchr13:107791374..107796514hg38UCSC Ensembl
chr13:108444027..108448581hg19UCSC Ensembl
Innerchr13:108444027..108448581hg19UCSC Ensembl
Outerchr13:108443722..108448862hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14890546, essv14890545, essv14890544, essv14890547, essv14890548
SamplesHG01795, HG02402, HG00445, NA18623, NA18577
Known GenesFAM155A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633493
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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