A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11734099



Internal ID1735915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184794187..184800729hg38UCSC Ensembl
chr4:185715341..185721883hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg386543
hg196543
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603470
Supporting Variants
SamplesHG01098
Known GenesACSL1, SLED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11734099
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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