A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675523



Internal ID9941628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52346665..52347323hg38UCSC Ensembl
chr4:53212831..53213489hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38659
hg19659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6383074, essv5671933
SamplesNA18868, NA18522
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675523
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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