A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669020



Internal ID9935125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238381738..238387016hg38UCSC Ensembl
chr2:239290379..239295657hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385279
hg195279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684460
SamplesNA20531
Known GenesTRAF3IP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669020
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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