A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657879



Internal ID9923984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165780582..165783299hg38UCSC Ensembl
Outerchr2:165780545..165783349hg38UCSC Ensembl
Innerchr2:166637092..166639809hg19UCSC Ensembl
Outerchr2:166637055..166639859hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382805
hg192805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5417290
SamplesHG01488
Known GenesGALNT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657879
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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