A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999364



Internal ID6735289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2269903..2270250hg38UCSC Ensembl
chr3:2311587..2311934hg19UCSC Ensembl
chr3:2286587..2286934hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38348
hg19348
hg18348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577612
SamplesHuRef
Known GenesCNTN4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999364
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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