A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13254054



Internal ID3854951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91027654..91030573hg38UCSC Ensembl
Innerchr8:91027678..91030550hg38UCSC Ensembl
Outerchr8:91027631..91030597hg38UCSC Ensembl
chr8:92039882..92042801hg19UCSC Ensembl
Innerchr8:92039906..92042778hg19UCSC Ensembl
Outerchr8:92039859..92042825hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg382920
hg192920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618011
Supporting Variants
SamplesHG03488
Known GenesTMEM55A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13254054
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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