A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5071n152



Internal ID22820774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237880011..237880116hg38UCSC Ensembl
chr2:238788653..238788758hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198340, nsv3195301
SamplesNA19238, NA19240
Known GenesRAMP1
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)dgv5071n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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