A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670483



Internal ID9936588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196830576..196834633hg38UCSC Ensembl
Outerchr3:196830539..196834683hg38UCSC Ensembl
Innerchr3:196557447..196561504hg19UCSC Ensembl
Outerchr3:196557410..196561554hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384145
hg194145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5701075
SamplesNA18622
Known GenesPAK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670483
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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