A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15961915



Internal ID4272149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:251548..283564hg38UCSC Ensembl
chr19:251548..283564hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3832017
hg1932017
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643341
Supporting Variants
SamplesHG03837
Known GenesPPAP2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15961915
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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