A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1664n100



Internal ID22787751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:57138666..57204234hg38UCSC Ensembl
chr13:57712800..57778368hg19UCSC Ensembl
chr13:56610801..56676369hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3865569
hg1965569
hg1865569
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1038742, nsv1041853, nsv1039896, nsv1044037, nsv1041888, nsv1052518, nsv1052899, nsv1053237
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1664n100
Frequency
Sample Size11257
Observed Gain106
Observed Loss62
Observed Complex0
Frequencyn/a


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