A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890709



Internal ID19185011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:110579399..110630296hg38UCSC Ensembl
Outerchr5:110568461..110661287hg38UCSC Ensembl
Innerchr5:109915100..109965997hg19UCSC Ensembl
Outerchr5:109904162..109996988hg19UCSC Ensembl
Innerchr5:109942999..109993896hg18UCSC Ensembl
Outerchr5:109932061..110024887hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3892827
hg1992827
hg1892827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796408, essv25781476, essv25786303
Samples
Known GenesTMEM232
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890709
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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