A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11956683



Internal ID4622569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81358104..81389529hg38UCSC Ensembl
Innerchr5:81358104..81389529hg38UCSC Ensembl
Outerchr5:81357604..81390029hg38UCSC Ensembl
chr5:80653923..80685348hg19UCSC Ensembl
Innerchr5:80653923..80685348hg19UCSC Ensembl
Outerchr5:80653423..80685848hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3831426
hg1931426
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605592
Supporting Variants
SamplesHG04156
Known GenesACOT12, RNU5D-1, RNU5E-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11956683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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