A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5703372



Internal ID8680775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27091826..27101247hg38UCSC Ensembl
chr2:27314694..27324115hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg389422
hg199422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673470
Supporting Variants
SamplesHG00187
Known GenesCGREF1, KHK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5703372
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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