A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3394n54



Internal ID22771289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110307531..110308596hg38UCSC Ensembl
chr13:110959878..110960943hg19UCSC Ensembl
chr13:109757879..109758944hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381066
hg191066
hg181066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv563114, nsv563116
Samples
Known GenesCOL4A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3394n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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