A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657801



Internal ID9577220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208368937..208382498hg38UCSC Ensembl
chr2:209233662..209247223hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3813562
hg1913562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5977663, essv6295595, essv6549078, essv5495001, essv5854691
SamplesNA18502, NA19235, HG01108, NA19213, NA18511
Known GenesPTH2R
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657801
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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