A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675190



Internal ID9594609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:132554369..132561348hg38UCSC Ensembl
Outerchr3:132554212..132561501hg38UCSC Ensembl
Innerchr3:132273213..132280192hg19UCSC Ensembl
Outerchr3:132273056..132280345hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg387290
hg197290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6221338, essv6008968, essv6094448
SamplesHG00324, NA06986, HG00312
Known GenesACAD11, NPHP3-ACAD11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675190
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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