A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1210673



Internal ID12027110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1142178..1142178hg38UCSC Ensembl
chr19:1142177..1142177hg19UCSC Ensembl
chr19:1093177..1093177hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38988
hg19988
hg18988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4325097
SamplesHuRef
Known GenesSBNO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1210673
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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