A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892386



Internal ID19183206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:70037245..70091060hg38UCSC Ensembl
Outerchr13:70037245..70091060hg38UCSC Ensembl
Innerchr13:70611377..70665192hg19UCSC Ensembl
Outerchr13:70611377..70665192hg19UCSC Ensembl
Innerchr13:69509378..69563193hg18UCSC Ensembl
Outerchr13:69509378..69563193hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3853816
hg1953816
hg1853816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780197
Samples
Known GenesKLHL1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892386
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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