A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8856n54



Internal ID22776751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197002210..197003542hg38UCSC Ensembl
chr3:196729081..196730413hg19UCSC Ensembl
chr3:198213478..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381333
hg191333
hg181333
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593110, nsv593108, nsv593107
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)dgv8856n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss5
Observed Complex0
Frequencyn/a


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