A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11877912



Internal ID1746526
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604824
Supporting Variants
SamplesHG01613
Known GenesPRKAA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11877912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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