A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990446



Internal ID5992262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11047482..11048300hg38UCSC Ensembl
Innerchr19:11047482..11048300hg38UCSC Ensembl
Outerchr19:11047146..11048718hg38UCSC Ensembl
chr19:11158158..11158976hg19UCSC Ensembl
Innerchr19:11158158..11158976hg19UCSC Ensembl
Outerchr19:11157822..11159394hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643661
Supporting Variants
SamplesNA19430
Known GenesSMARCA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990446
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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