A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11690414



Internal ID6720257
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603125
Supporting Variants
SamplesNA20850
Known GenesC4orf27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11690414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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