A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450657



Internal ID15297605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82172375..82174473hg38UCSC Ensembl
Innerchr4:82173375..82173473hg38UCSC Ensembl
Outerchr4:82171375..82175473hg38UCSC Ensembl
chr4:83093528..83095626hg19UCSC Ensembl
Innerchr4:83094528..83094626hg19UCSC Ensembl
Outerchr4:83092528..83096626hg19UCSC Ensembl
chr4:83312552..83314650hg18UCSC Ensembl
Innerchr4:83313552..83313650hg18UCSC Ensembl
Outerchr4:83311552..83315650hg18UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694517
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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