A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989390



Internal ID6712040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30522251..30522251hg38UCSC Ensembl
chr19:31013158..31013158hg19UCSC Ensembl
chr19:35704998..35704998hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577880
SamplesHuRef
Known GenesZNF536
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989390
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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