A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604824



Internal ID6991852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40779178..40786750hg38UCSC Ensembl
Innerchr5:40779207..40786722hg38UCSC Ensembl
Outerchr5:40779150..40786779hg38UCSC Ensembl
chr5:40779280..40786852hg19UCSC Ensembl
Innerchr5:40779309..40786824hg19UCSC Ensembl
Outerchr5:40779252..40786881hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387573
hg197573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11877911, essv11877910, essv11877912
SamplesHG01613, HG00353, HG00339
Known GenesPRKAA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604824
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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