A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13200500



Internal ID937103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52513334..52648974hg38UCSC Ensembl
chr8:53425894..53561534hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38135641
hg19135641
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617214
Supporting Variants
SamplesHG00559
Known GenesFAM150A, RB1CC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13200500
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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