A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16064851



Internal ID5576371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44606502..44609423hg38UCSC Ensembl
Innerchr19:44606523..44609402hg38UCSC Ensembl
Outerchr19:44606481..44609444hg38UCSC Ensembl
chr19:45109819..45112741hg19UCSC Ensembl
Innerchr19:45109840..45112720hg19UCSC Ensembl
Outerchr19:45109798..45112762hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg382922
hg192923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644489
Supporting Variants
SamplesNA19023
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16064851
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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