A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643435



Internal ID6683509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2720377..2727477hg38UCSC Ensembl
chr19:2720375..2727475hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15969602, essv15969601
SamplesHG01859, HG01396
Known GenesDIRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643435
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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