A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675276



Internal ID9594695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:9412706..9417471hg38UCSC Ensembl
Outerchr3:9412549..9417624hg38UCSC Ensembl
Innerchr3:9454390..9459155hg19UCSC Ensembl
Outerchr3:9454233..9459308hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg385076
hg195076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6444902
SamplesHG00346
Known GenesSETD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675276
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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