A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765209



Internal ID18739455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112604304..112608604hg38UCSC Ensembl
Outerchr5:112603304..112609303hg38UCSC Ensembl
Innerchr5:111940001..111944301hg19UCSC Ensembl
Outerchr5:111939001..111945000hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566462
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765209
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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