A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12215650



Internal ID4549751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:20073757..20088831hg38UCSC Ensembl
Innerchr6:20073780..20088808hg38UCSC Ensembl
Outerchr6:20073734..20088854hg38UCSC Ensembl
chr6:20073988..20089062hg19UCSC Ensembl
Innerchr6:20074011..20089039hg19UCSC Ensembl
Outerchr6:20073965..20089085hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3815075
hg1915075
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608285
Supporting Variants
SamplesHG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12215650
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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