A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1712n100



Internal ID22787799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70159659..70205236hg38UCSC Ensembl
chr13:70733791..70779368hg19UCSC Ensembl
chr13:69631792..69677369hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3845578
hg1945578
hg1845578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049448, nsv1040200, nsv1041604, nsv1043547, nsv1052643, nsv1044033, nsv1041406, nsv1041687, nsv1038142, nsv1036448, nsv1046521, nsv1050640, nsv1043816, nsv1053007, nsv1050401
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1712n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss123
Observed Complex0
Frequencyn/a


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