A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12186348



Internal ID408146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10052709..10057219hg38UCSC Ensembl
Innerchr6:10052714..10057215hg38UCSC Ensembl
Outerchr6:10052705..10057224hg38UCSC Ensembl
chr6:10052942..10057452hg19UCSC Ensembl
Innerchr6:10052947..10057448hg19UCSC Ensembl
Outerchr6:10052938..10057457hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg384511
hg194511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608060
Supporting Variants
SamplesHG00121
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12186348
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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