A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3647n152



Internal ID22819350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75044187..75044504hg38UCSC Ensembl
chr17:73040282..73040599hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3181597, nsv3186127
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known GenesATP5H
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)dgv3647n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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