A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603469



Internal ID6643723
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11734097, essv11734092, essv11734095, essv11734093, essv11734098, essv11734094, essv11734096
SamplesHG00403, HG01098, HG00736, HG02278, NA19917, HG00266, HG00275
Known GenesACSL1, LOC731424, SLED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603469
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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