A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054378



Internal ID5921597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39042497..39050323hg38UCSC Ensembl
Innerchr19:39042497..39050323hg38UCSC Ensembl
Outerchr19:39042321..39050511hg38UCSC Ensembl
chr19:39533137..39540963hg19UCSC Ensembl
Innerchr19:39533137..39540963hg19UCSC Ensembl
Outerchr19:39532961..39541151hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg387827
hg197827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644320
Supporting Variants
SamplesNA19331
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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