A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499816



Internal ID4213687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109347103..109359945hg38UCSC Ensembl
Innerchr6:109347116..109359933hg38UCSC Ensembl
Outerchr6:109347091..109359958hg38UCSC Ensembl
chr6:109668306..109681148hg19UCSC Ensembl
Innerchr6:109668319..109681136hg19UCSC Ensembl
Outerchr6:109668294..109681161hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3812843
hg1912843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610336
Supporting Variants
SamplesHG03790
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499816
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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