A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1701n152



Internal ID22817404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6579048..6579177hg38UCSC Ensembl
chr12:6688214..6688343hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3214618, nsv3527436
SamplesNA19239, HG00732, NA19240, HG00733
Known GenesCHD4
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1701n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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