A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569687



Internal ID6694383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:108900765..108900849hg38UCSC Ensembl
chr9:111663045..111663129hg19UCSC Ensembl
chr9:110702866..110702950hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3885
hg1985
hg1885
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987554
Supporting Variants
SamplesHuRef
Known GenesIKBKAP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569687
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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