A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13103946



Internal ID3105762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11534628..11585574hg38UCSC Ensembl
chr8:11392137..11443083hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3850947
hg1950947
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616250
Supporting Variants
SamplesHG01176
Known GenesBLK, LINC00208
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13103946
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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