A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5794247



Internal ID9117757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3365329..3366232hg38UCSC Ensembl
Outerchr6:3365172..3366385hg38UCSC Ensembl
Innerchr6:3365563..3366466hg19UCSC Ensembl
Outerchr6:3365406..3366619hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678916
Supporting Variants
SamplesHG01125
Known GenesSLC22A23
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5794247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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