A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643670



Internal ID6683741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11316774..11327794hg38UCSC Ensembl
Innerchr19:11316924..11327644hg38UCSC Ensembl
Outerchr19:11316624..11327944hg38UCSC Ensembl
chr19:11427450..11438470hg19UCSC Ensembl
Innerchr19:11427600..11438320hg19UCSC Ensembl
Outerchr19:11427300..11438620hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811021
hg1911021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990784
SamplesHG01991
Known GenesRAB3D, TSPAN16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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