A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16079950



Internal ID3080472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51483799..51486019hg38UCSC Ensembl
Innerchr19:51483820..51485999hg38UCSC Ensembl
Outerchr19:51483779..51486040hg38UCSC Ensembl
chr19:51987053..51989273hg19UCSC Ensembl
Innerchr19:51987074..51989253hg19UCSC Ensembl
Outerchr19:51987033..51989294hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382221
hg192221
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644671
Supporting Variants
SamplesHG02702
Known GenesCEACAM18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16079950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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