A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644671



Internal ID7031425
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16079950
SamplesHG02702
Known GenesCEACAM18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644671
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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