A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1208689



Internal ID12025126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2453974..2454247hg38UCSC Ensembl
chr3:2495658..2495931hg19UCSC Ensembl
chr3:2470658..2470931hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38274
hg19274
hg18274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4095415
SamplesHuRef
Known GenesCNTN4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1208689
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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