A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161543



Internal ID7906257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:95958383..96095800hg38UCSC Ensembl
Innerchr6:96406259..96543676hg19UCSC Ensembl
Innerchr6:96512980..96650397hg18UCSC Ensembl
Innerchr6:96512980..96650397hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38137418
hg19137418
hg18137418
hg17137418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422431
Supporting Variants
SamplesND04104
Known GenesFUT9
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161543
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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