A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578637



Internal ID7050019
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989196
Supporting Variants
SamplesHuRef
Known GenesGPIHBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578637
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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