A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643436



Internal ID6683510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2720377..2727477hg38UCSC Ensembl
chr19:2720375..2727475hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15969603, essv15969605, essv15969607, essv15969604, essv15969606
SamplesNA19393, NA12760, NA20276, HG02095, HG02052
Known GenesDIRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643436
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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