A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260196



Internal ID3262012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93848872..93893317hg38UCSC Ensembl
Innerchr8:93848872..93893317hg38UCSC Ensembl
Outerchr8:93848372..93893817hg38UCSC Ensembl
chr8:94861100..94905545hg19UCSC Ensembl
Innerchr8:94861100..94905545hg19UCSC Ensembl
Outerchr8:94860600..94906045hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3844446
hg1944446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618061
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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