A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765831



Internal ID18740077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178680554..178684838hg38UCSC Ensembl
Outerchr5:178679000..178685942hg38UCSC Ensembl
Innerchr5:178107555..178111839hg19UCSC Ensembl
Outerchr5:178106001..178112943hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg386943
hg196943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3567084
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765831
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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