A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13251579



Internal ID943906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:88529380..88573208hg38UCSC Ensembl
chr8:89541609..89585437hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3843829
hg1943829
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617947
Supporting Variants
SamplesHG00566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13251579
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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