A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv78n54



Internal ID18992254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6381833..6385746hg38UCSC Ensembl
chr1:6441893..6445806hg19UCSC Ensembl
chr1:6364480..6368393hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg383914
hg193914
hg183914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545252, nsv545251
Samples
Known GenesACOT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv78n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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