A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12630729



Internal ID5023241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166052561..166055749hg38UCSC Ensembl
Innerchr6:166052588..166055723hg38UCSC Ensembl
Outerchr6:166052535..166055776hg38UCSC Ensembl
chr6:166466049..166469237hg19UCSC Ensembl
Innerchr6:166466076..166469211hg19UCSC Ensembl
Outerchr6:166466023..166469264hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383189
hg193189
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611626
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12630729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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