A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996951



Internal ID7080921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:81766556..81769160hg38UCSC Ensembl
Outerchr6:82476273..82478877hg19UCSC Ensembl
Outerchr6:82532992..82535596hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg382990
hg192990
hg182990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564271
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996951
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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