A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8857n54



Internal ID22776752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197002559..197003542hg38UCSC Ensembl
chr3:196729430..196730413hg19UCSC Ensembl
chr3:198213827..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38984
hg19984
hg18984
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593113, nsv593111
Samples
Known GenesMFI2, MFI2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8857n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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