A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5449952



Internal ID9578106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208470402..208470664hg38UCSC Ensembl
chr2:209335127..209335389hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666372
Supporting Variants
SamplesNA19147
Known GenesPTH2R
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5449952
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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