A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575886



Internal ID6700582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531237..144531361hg38UCSC Ensembl
chr8:145756621..145756745hg19UCSC Ensembl
chr8:145727429..145727553hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009938
Supporting Variants
SamplesHuRef
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575886
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer