A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1739089



Internal ID12555521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:602971..602971hg38UCSC Ensembl
chr19:602971..602971hg19UCSC Ensembl
chr19:553971..553971hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38471
hg19471
hg18471
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4098909
SamplesHuRef
Known GenesHCN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1739089
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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