A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669503



Internal ID9935608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110813107..110813251hg38UCSC Ensembl
Outerchr13:110813070..110813301hg38UCSC Ensembl
Innerchr13:111465454..111465598hg19UCSC Ensembl
Outerchr13:111465417..111465648hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6406638, essv5865964, essv6084808, essv6370042, essv6105967, essv6582174, essv5430738, essv6008541, essv5736702, essv5421631, essv5670138, essv6565938, essv5685511, essv6024706, essv6422275, essv5709557, essv6418474, essv6308065, essv5900219, essv5459266, essv6275530, essv6278035, essv6076404
SamplesNA10851, NA20294, NA20332, HG00327, NA19379, HG01366, NA19138, HG00139, NA19137, NA19371, HG00326, NA19391, HG00479, HG00254, NA19390, NA19321, NA19147, NA19428, HG01108, NA18501, HG00478, HG00280, NA19129
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669503
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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