A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13218188



Internal ID3220004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68270355..68394714hg38UCSC Ensembl
chr8:69182590..69306949hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38124360
hg19124360
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617519
Supporting Variants
SamplesHG02406
Known GenesC8orf34, LOC286189
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13218188
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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