A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13128916



Internal ID6735326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17879550..17896299hg38UCSC Ensembl
Innerchr8:17879550..17896299hg38UCSC Ensembl
Outerchr8:17879304..17896436hg38UCSC Ensembl
chr8:17737059..17753808hg19UCSC Ensembl
Innerchr8:17737059..17753808hg19UCSC Ensembl
Outerchr8:17736813..17753945hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3816750
hg1916750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616504
Supporting Variants
SamplesNA20858
Known GenesFGL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13128916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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