A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214047



Internal ID6297647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65179660..65182534hg38UCSC Ensembl
Innerchr8:65179724..65182470hg38UCSC Ensembl
Outerchr8:65179596..65182598hg38UCSC Ensembl
chr8:66091895..66094769hg19UCSC Ensembl
Innerchr8:66091959..66094705hg19UCSC Ensembl
Outerchr8:66091831..66094833hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382875
hg192875
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617456
Supporting Variants
SamplesNA19901
Known GenesLINC00251
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214047
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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