A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672006



Internal ID9591425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132912066..132916880hg38UCSC Ensembl
chr2:133669639..133674453hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg384815
hg194815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv733e199
Supporting Variantsessv5992753, essv5549822
SamplesHG00182, HG00280
Known GenesMIR7853, NCKAP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672006
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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