A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8438n152



Internal ID22824141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23504186..23505586hg38UCSC Ensembl
chr7:23543805..23545205hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198730, nsv3192781
SamplesNA19238, NA19240
Known GenesTRA2A
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)dgv8438n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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