A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13251623



Internal ID943982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88752638..88821261hg38UCSC Ensembl
chr8:89764867..89833490hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3868624
hg1968624
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617956
Supporting Variants
SamplesHG00566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13251623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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