A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664670



Internal ID9584089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22699163..22775493hg38UCSC Ensembl
Outerchr4:22699126..22775543hg38UCSC Ensembl
Innerchr4:22700786..22777116hg19UCSC Ensembl
Outerchr4:22700749..22777166hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3876418
hg1976418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5701953
SamplesNA18984
Known GenesGBA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664670
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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