A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002266



Internal ID7067382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171316904..171316965hg38UCSC Ensembl
chr3:171034693..171034754hg19UCSC Ensembl
chr3:172517387..172517448hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574707
SamplesHuRef
Known GenesTNIK
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002266
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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