A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14875757



Internal ID1959498
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633341
Supporting Variants
SamplesHG01812
Known GenesPCCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14875757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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