A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12179590



Internal ID2181406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5266831..5338518hg38UCSC Ensembl
Innerchr6:5266831..5338518hg38UCSC Ensembl
Outerchr6:5266331..5339018hg38UCSC Ensembl
chr6:5267064..5338751hg19UCSC Ensembl
Innerchr6:5267064..5338751hg19UCSC Ensembl
Outerchr6:5266564..5339251hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3871688
hg1971688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607966
Supporting Variants
SamplesHG01973
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12179590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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