A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764880



Internal ID18739126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77752535..77752836hg38UCSC Ensembl
Outerchr5:77752473..77752904hg38UCSC Ensembl
Innerchr5:77048359..77048660hg19UCSC Ensembl
Outerchr5:77048297..77048728hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566133
Supporting Variants
Samples
Known GenesTBCA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764880
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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