A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1479020



Internal ID12642142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140549205..140550618hg38UCSC Ensembl
chr3:140268047..140269460hg19UCSC Ensembl
chr3:141750737..141752150hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381414
hg191414
hg181414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3692596
SamplesHuRef
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1479020
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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