A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643661



Internal ID6683732
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990446, essv15990448, essv15990445, essv15990444, essv15990447
SamplesNA19430, NA21088, NA21144, HG03022, HG01746
Known GenesSMARCA4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643661
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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