A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652260



Internal ID15102591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2299219..2299693hg38UCSC Ensembl
Innerchr4:2299219..2299693hg38UCSC Ensembl
Outerchr4:2299129..2299707hg38UCSC Ensembl
chr4:2300946..2301420hg19UCSC Ensembl
Innerchr4:2300946..2301420hg19UCSC Ensembl
Outerchr4:2300856..2301434hg19UCSC Ensembl
chr4:2270744..2271218hg18UCSC Ensembl
Innerchr4:2270744..2271218hg18UCSC Ensembl
Outerchr4:2270654..2271232hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38475
hg19475
hg18475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444124
Supporting Variants
SamplesNA19240
Known GenesZFYVE28
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652260
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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