A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054647



Internal ID6198371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39960538..39961933hg38UCSC Ensembl
Innerchr19:39960538..39961933hg38UCSC Ensembl
Outerchr19:39960384..39962120hg38UCSC Ensembl
chr19:40466445..40467840hg19UCSC Ensembl
Innerchr19:40466445..40467840hg19UCSC Ensembl
Outerchr19:40466291..40468027hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381396
hg191396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644339
Supporting Variants
SamplesNA19726
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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