A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694372



Internal ID15043823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25921932..25924030hg38UCSC Ensembl
Innerchr4:25922932..25923030hg38UCSC Ensembl
Outerchr4:25920932..25925030hg38UCSC Ensembl
chr4:25923554..25925652hg19UCSC Ensembl
Innerchr4:25924554..25924652hg19UCSC Ensembl
Outerchr4:25922554..25926652hg19UCSC Ensembl
chr4:25532652..25534750hg18UCSC Ensembl
Innerchr4:25533652..25533750hg18UCSC Ensembl
Outerchr4:25531652..25535750hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3436006
Supporting Variants
SamplesNA19239
Known GenesSMIM20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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