A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13257897



Internal ID4676678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92231845..92257304hg38UCSC Ensembl
Innerchr8:92231888..92257261hg38UCSC Ensembl
Outerchr8:92231802..92257347hg38UCSC Ensembl
chr8:93244073..93269532hg19UCSC Ensembl
Innerchr8:93244116..93269489hg19UCSC Ensembl
Outerchr8:93244030..93269575hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3825460
hg1925460
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618036
Supporting Variants
SamplesHG04202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13257897
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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