A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606292



Internal ID6993228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112290553..112348250hg38UCSC Ensembl
Innerchr5:112290553..112348250hg38UCSC Ensembl
Outerchr5:112290053..112348750hg38UCSC Ensembl
chr5:111626250..111683947hg19UCSC Ensembl
Innerchr5:111626250..111683947hg19UCSC Ensembl
Outerchr5:111625750..111684447hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3857698
hg1957698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022030
SamplesHG02501
Known GenesEPB41L4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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