A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13310732



Internal ID1645964
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618680
Supporting Variants
SamplesHG01515
Known GenesFER1L6, FER1L6-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13310732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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