A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1614687



Internal ID12777807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45789564..45789618hg38UCSC Ensembl
chr3:45831056..45831110hg19UCSC Ensembl
chr3:45806060..45806114hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4022639
SamplesHuRef
Known GenesSLC6A20
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1614687
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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