A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643833



Internal ID6683902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18192120..18200529hg38UCSC Ensembl
chr19:18302930..18311339hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg388410
hg198410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16003849
SamplesHG01198
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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