A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8757n54



Internal ID22776652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183818275..183825715hg38UCSC Ensembl
chr3:183536063..183543503hg19UCSC Ensembl
chr3:185018757..185026197hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg387441
hg197441
hg187441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592657, nsv592658
Samples
Known GenesMAP6D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8757n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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