A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3545167



Internal ID18746243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:96300343..96300632hg38UCSC Ensembl
Outerchr9:96300269..96300700hg38UCSC Ensembl
Innerchr9:99062625..99062914hg19UCSC Ensembl
Outerchr9:99062551..99062982hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9743914
Samples
Known GenesHSD17B3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3545167
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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