A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13200505



Internal ID3202321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52625360..52684547hg38UCSC Ensembl
chr8:53537920..53597107hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3859188
hg1959188
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617217
Supporting Variants
SamplesNA20806
Known GenesRB1CC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13200505
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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