A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6545845



Internal ID9419266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36593221..36594471hg38UCSC Ensembl
chr2:36820364..36821614hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662106
Supporting Variants
SamplesNA18620
Known GenesFEZ2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6545845
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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