A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9759484



Internal ID18733730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:36267653..36267841hg38UCSC Ensembl
Outerchr1:36267620..36267902hg38UCSC Ensembl
Innerchr1:36733254..36733442hg19UCSC Ensembl
Outerchr1:36733221..36733503hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3560737
Supporting Variants
Samples
Known GenesTHRAP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9759484
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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