A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12174504



Internal ID4665150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1593352..1596194hg38UCSC Ensembl
Innerchr6:1593352..1596194hg38UCSC Ensembl
Outerchr6:1593252..1596296hg38UCSC Ensembl
chr6:1593587..1596429hg19UCSC Ensembl
Innerchr6:1593587..1596429hg19UCSC Ensembl
Outerchr6:1593487..1596531hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg382843
hg192843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607893
Supporting Variants
SamplesHG04189
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12174504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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