A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988068



Internal ID7060368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:95216089..95223390hg38UCSC Ensembl
Outerchr8:96228317..96235618hg19UCSC Ensembl
Outerchr8:96297493..96304794hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg387302
hg197302
hg187302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565689
SamplesHuRef
Known GenesC8orf69
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988068
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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