A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989196



Internal ID7076010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143213589..143213645hg38UCSC Ensembl
chr8:144295464..144295520hg19UCSC Ensembl
chr8:144366839..144366895hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578637
SamplesHuRef
Known GenesGPIHBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989196
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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