A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12508208



Internal ID2510024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:114067303..114068362hg38UCSC Ensembl
Innerchr6:114067303..114068362hg38UCSC Ensembl
Outerchr6:114067088..114068512hg38UCSC Ensembl
chr6:114388467..114389526hg19UCSC Ensembl
Innerchr6:114388467..114389526hg19UCSC Ensembl
Outerchr6:114388252..114389676hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610425
Supporting Variants
SamplesHG01686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12508208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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