A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9743900



Internal ID18718146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:95503772..95504051hg38UCSC Ensembl
Outerchr9:95503700..95504096hg38UCSC Ensembl
Innerchr9:98266054..98266333hg19UCSC Ensembl
Outerchr9:98265982..98266378hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545153
Supporting Variants
Samples
Known GenesPTCH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9743900
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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