A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968168



Internal ID3177070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1922441..1923828hg38UCSC Ensembl
Innerchr19:1922467..1923802hg38UCSC Ensembl
Outerchr19:1922415..1923854hg38UCSC Ensembl
chr19:1922440..1923827hg19UCSC Ensembl
Innerchr19:1922466..1923801hg19UCSC Ensembl
Outerchr19:1922414..1923853hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381388
hg191388
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643413
Supporting Variants
SamplesHG02792
Known GenesSCAMP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968168
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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