A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644658



Internal ID7031412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50847376..50853211hg38UCSC Ensembl
chr19:51350632..51356467hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg385836
hg195836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16078734, essv16078735, essv16078739, essv16078740, essv16078738, essv16078741, essv16078736, essv16078737
SamplesHG03821, HG02661, HG03594, NA20896, HG03928, NA20875, NA20901, NA21125
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644658
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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