A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1428489



Internal ID12244925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1165978..1165978hg38UCSC Ensembl
chr19:1165977..1165977hg19UCSC Ensembl
chr19:1116977..1116977hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3990069
SamplesHuRef
Known GenesSBNO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1428489
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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