A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071054



Internal ID6126159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47595539..47601266hg38UCSC Ensembl
Innerchr19:47595539..47601266hg38UCSC Ensembl
Outerchr19:47595303..47601517hg38UCSC Ensembl
chr19:48098796..48104523hg19UCSC Ensembl
Innerchr19:48098796..48104523hg19UCSC Ensembl
Outerchr19:48098560..48104774hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385728
hg195728
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644554
Supporting Variants
SamplesNA19661
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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