A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13201691



Internal ID3203507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52938447..53031293hg38UCSC Ensembl
chr8:53851007..53943853hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3892847
hg1992847
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617225
Supporting Variants
SamplesHG03461
Known GenesNPBWR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13201691
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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