A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8649n54



Internal ID20142073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150408383..150410440hg38UCSC Ensembl
chr3:150126170..150128227hg19UCSC Ensembl
chr3:151608860..151610917hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382058
hg192058
hg182058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592033, nsv592034
Samples
Known GenesTSC22D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8649n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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