A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003849



Internal ID1359539
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643833
Supporting Variants
SamplesHG01198
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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