A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748994



Internal ID18723240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29641776..29647645hg38UCSC Ensembl
Outerchr13:29641430..29649021hg38UCSC Ensembl
Innerchr13:30215913..30221782hg19UCSC Ensembl
Outerchr13:30215567..30223158hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg387592
hg197592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3550247
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748994
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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