A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890745



Internal ID19185047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:144265217..144359432hg38UCSC Ensembl
Outerchr5:144265217..144359432hg38UCSC Ensembl
Innerchr5:143644780..143738995hg19UCSC Ensembl
Outerchr5:143644780..143738995hg19UCSC Ensembl
Innerchr5:143624973..143719188hg18UCSC Ensembl
Outerchr5:143624973..143719188hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3894216
hg1994216
hg1894216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25785183
Samples
Known GenesKCTD16
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890745
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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