A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632188



Internal ID7018998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56695133..56756968hg38UCSC Ensembl
chr13:57269267..57331102hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3861836
hg1961836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14741408
SamplesHG01251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632188
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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