A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1510992



Internal ID12327428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42989614..42989942hg38UCSC Ensembl
chr3:43031106..43031434hg19UCSC Ensembl
chr3:43006110..43006438hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38329
hg19329
hg18329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3875104
SamplesHuRef
Known GenesFAM198A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1510992
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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