A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8746n152



Internal ID22824449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128478452..128478669hg38UCSC Ensembl
chr7:128118506..128118723hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3210519, nsv3213705
SamplesNA19239, HG00731, NA19240, HG00733
Known GenesMETTL2B
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)dgv8746n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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