A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4734n152



Internal ID22820437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109929060..110398674hg38UCSC Ensembl
chr2:110686637..111156251hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38469615
hg19469615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206604, nsv3210360
SamplesHG00732, HG00733
Known GenesLIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4734n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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