A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11734098



Internal ID1735914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184787760..184847802hg38UCSC Ensembl
Innerchr4:184787910..184847652hg38UCSC Ensembl
Outerchr4:184787610..184847952hg38UCSC Ensembl
chr4:185708914..185768956hg19UCSC Ensembl
Innerchr4:185709064..185768806hg19UCSC Ensembl
Outerchr4:185708764..185769106hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3860043
hg1960043
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603469
Supporting Variants
SamplesNA19917
Known GenesACSL1, LOC731424, SLED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11734098
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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