A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672967



Internal ID9939072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127794239..127797233hg38UCSC Ensembl
chr2:128551813..128554807hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382995
hg192995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5496841, essv5811094, essv5869324, essv6461149
SamplesNA18508, NA20346, NA20806, NA19716
Known GenesWDR33
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672967
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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