A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4767n152



Internal ID22820470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118299162..118316865hg38UCSC Ensembl
chr2:119056738..119074441hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3817704
hg1917704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202111, nsv3196595
SamplesHG00512, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4767n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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