A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16048665



Internal ID2060530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:36215365..36219350hg38UCSC Ensembl
Innerchr19:36215398..36219318hg38UCSC Ensembl
Outerchr19:36215333..36219383hg38UCSC Ensembl
chr19:36706267..36710252hg19UCSC Ensembl
Innerchr19:36706300..36710220hg19UCSC Ensembl
Outerchr19:36706235..36710285hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg383986
hg193986
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644249
Supporting Variants
SamplesHG01879
Known GenesZNF146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16048665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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