A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994889



Internal ID7079424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70671336..70672544hg38UCSC Ensembl
Outerchr8:71583571..71584779hg19UCSC Ensembl
Outerchr8:71746125..71747333hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg381209
hg191209
hg181209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563814
SamplesHuRef
Known GenesXKR9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994889
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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