A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603471



Internal ID6990502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184811261..184820348hg38UCSC Ensembl
chr4:185732415..185741502hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg389088
hg199088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11734101, essv11734105, essv11734110, essv11734108, essv11734103, essv11734104, essv11734102, essv11734107, essv11734106, essv11734109
SamplesHG00142, NA19746, NA20796, HG01702, HG01360, NA20809, NA20506, HG02219, HG01933, HG01086
Known GenesACSL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603471
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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