A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1612n100



Internal ID20153228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20222652..20530273hg38UCSC Ensembl
chr13:20796791..21104412hg19UCSC Ensembl
chr13:19694791..20002412hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38307622
hg19307622
hg18307622
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044016, nsv1050666, nsv1052854
Samples
Known GenesCRYL1, GJB6, MIR4499
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1612n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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