A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12174n54



Internal ID22780069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56141307..56186746hg38UCSC Ensembl
chr8:57053866..57099305hg19UCSC Ensembl
chr8:57216420..57261859hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3845440
hg1945440
hg1845440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611400, nsv611398, nsv611399
Samples
Known GenesPLAG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12174n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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