A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107401



Internal ID6109217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:57971972..57980802hg38UCSC Ensembl
chr19:58483340..58492170hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg388831
hg198831
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644918
Supporting Variants
SamplesHG01250
Known GenesC19orf18, ZNF606
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107401
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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