A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24e198



Internal ID22757756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57272207..57281286hg38UCSC Ensembl
chr18:54939438..54948517hg19UCSC Ensembl
chr18:53090436..53099515hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg389080
hg199080
hg189080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2656287, esv2656075, esv2656346, esv2656417, esv2656365, esv2656200, esv2656173, esv2656109, esv2656386, esv2656382, esv2656196, esv2656070, esv2656294, esv2656410, esv2656383
Samples2315 [14], 2321 [19], 2340 [36], 2311 [10], 2377 [55], 2325 [23], 2308 [7], 2242 [59], 2347 [42], 2349 [43], 2324 [22], 2301 [1], 2357 [51], 2304 [3], 2310 [9], 2331 [28]
Known Genes
MethodMerging
AnalysisCalls merged from CNV Partition and PennCV algorithms
PlatformMerging
Comments
ReferenceChia_et_al_2012
Pubmed ID23635498
Accession Number(s)dgv24e198
Frequency
Sample Size64
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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