A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608440



Internal ID6648678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27823835..27828656hg38UCSC Ensembl
Innerchr6:27823875..27828617hg38UCSC Ensembl
Outerchr6:27823796..27828696hg38UCSC Ensembl
chr6:27791613..27796434hg19UCSC Ensembl
Innerchr6:27791653..27796395hg19UCSC Ensembl
Outerchr6:27791574..27796474hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg384822
hg194822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12238822
SamplesHG02146
Known GenesHIST1H4J
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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