A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618680



Internal ID7005562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124089247..124098454hg38UCSC Ensembl
Innerchr8:124089250..124098452hg38UCSC Ensembl
Outerchr8:124089245..124098457hg38UCSC Ensembl
chr8:125101488..125110695hg19UCSC Ensembl
Innerchr8:125101491..125110693hg19UCSC Ensembl
Outerchr8:125101486..125110698hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg389208
hg199208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13310733, essv13310732
SamplesHG01766, HG01515
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618680
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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