A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214212



Internal ID3216028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65655759..65664316hg38UCSC Ensembl
Innerchr8:65656259..65663816hg38UCSC Ensembl
Outerchr8:65654759..65665316hg38UCSC Ensembl
chr8:66567994..66576551hg19UCSC Ensembl
Innerchr8:66568494..66576051hg19UCSC Ensembl
Outerchr8:66566994..66577551hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg388558
hg198558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617469
Supporting Variants
SamplesHG03955
Known GenesMTFR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214212
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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