A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618954



Internal ID7005835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:137180958..137282851hg38UCSC Ensembl
Innerchr8:137180999..137282811hg38UCSC Ensembl
Outerchr8:137180918..137282892hg38UCSC Ensembl
chr8:138193201..138295094hg19UCSC Ensembl
Innerchr8:138193242..138295054hg19UCSC Ensembl
Outerchr8:138193161..138295135hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38101894
hg19101894
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13341900, essv13341901
SamplesHG02667, HG02768
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618954
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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