A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8333n54



Internal ID22776228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52998619..53004967hg38UCSC Ensembl
chr3:53032635..53038983hg19UCSC Ensembl
chr3:53007675..53014023hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386349
hg196349
hg186349
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590340, nsv590334, nsv590338, nsv590337, nsv590335, nsv590333, nsv590336
Samples
Known GenesSFMBT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8333n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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