A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749221



Internal ID18723467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:53661366..53665322hg38UCSC Ensembl
Outerchr13:53660366..53666365hg38UCSC Ensembl
Innerchr13:54235501..54239457hg19UCSC Ensembl
Outerchr13:54234501..54240500hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550474
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749221
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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