A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644782



Internal ID6684846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54138064..54154026hg38UCSC Ensembl
chr19:54641780..54657763hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3815963
hg1915984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16091196, essv16091200, essv16091198, essv16091197, essv16091201, essv16091199, essv16091195, essv16091202
SamplesHG01896, HG00234, HG01777, HG00451, HG01699, HG01951, HG02315, HG01932
Known GenesCNOT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644782
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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