A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749121



Internal ID18723367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42181862..42182058hg38UCSC Ensembl
Outerchr13:42181811..42182092hg38UCSC Ensembl
Innerchr13:42755998..42756194hg19UCSC Ensembl
Outerchr13:42755947..42756228hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550374
Supporting Variants
Samples
Known GenesDGKH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749121
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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