A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618035



Internal ID7004918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92136545..92137691hg38UCSC Ensembl
Innerchr8:92136545..92137691hg38UCSC Ensembl
Outerchr8:92136416..92137817hg38UCSC Ensembl
chr8:93148773..93149919hg19UCSC Ensembl
Innerchr8:93148773..93149919hg19UCSC Ensembl
Outerchr8:93148644..93150045hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381147
hg191147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13257895, essv13257896
SamplesHG01979, HG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618035
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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