A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660892



Internal ID9580311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54834719..54836925hg38UCSC Ensembl
chr18:52501950..52504156hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg382207
hg192207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5674443, essv6187843, essv5640566, essv5849680, essv6454953, essv5635096, essv5762214, essv5862912, essv6179161, essv6410369
SamplesNA19436, NA19236, NA19107, NA19403, NA18499, NA19346, NA18908, NA19473, NA19468, NA19385
Known GenesRAB27B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660892
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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