A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8931928



Internal ID13779722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106054250..106054315hg38UCSC Ensembl
Innerchr6:106054278..106054287hg38UCSC Ensembl
Outerchr6:106054222..106054343hg38UCSC Ensembl
chr6:106502125..106502190hg19UCSC Ensembl
Innerchr6:106502153..106502162hg19UCSC Ensembl
Outerchr6:106502097..106502218hg19UCSC Ensembl
chr6:106608818..106608883hg18UCSC Ensembl
Innerchr6:106608846..106608855hg18UCSC Ensembl
Outerchr6:106608790..106608911hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424287
Supporting Variants
SamplesNA18501
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8931928
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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