A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9765447



Internal ID18393007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138271636..138272037hg38UCSC Ensembl
Outerchr5:138271596..138272108hg38UCSC Ensembl
Innerchr5:137607325..137607726hg19UCSC Ensembl
Outerchr5:137607285..137607797hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3566700
Supporting Variants
Samples
Known GenesGFRA3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9765447
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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