A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13271494



Internal ID5372122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103517641..103682853hg38UCSC Ensembl
chr8:104529869..104695081hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38165213
hg19165213
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618254
Supporting Variants
SamplesNA18915
Known GenesRIMS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13271494
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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