A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603125



Internal ID6990157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169750026..169753287hg38UCSC Ensembl
Innerchr4:169750051..169753262hg38UCSC Ensembl
Outerchr4:169750001..169753312hg38UCSC Ensembl
chr4:170671177..170674438hg19UCSC Ensembl
Innerchr4:170671202..170674413hg19UCSC Ensembl
Outerchr4:170671152..170674463hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11690413, essv11690414
SamplesHG03926, NA20850
Known GenesC4orf27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603125
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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