A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633341



Internal ID7020150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100126286..100131090hg38UCSC Ensembl
Innerchr13:100126295..100131082hg38UCSC Ensembl
Outerchr13:100126278..100131099hg38UCSC Ensembl
chr13:100778540..100783344hg19UCSC Ensembl
Innerchr13:100778549..100783336hg19UCSC Ensembl
Outerchr13:100778532..100783353hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384805
hg194805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14875757, essv14875758
SamplesHG02152, HG01812
Known GenesPCCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633341
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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