A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161427



Internal ID7906141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4775920..5160979hg38UCSC Ensembl
Innerchr16:4825921..5210980hg19UCSC Ensembl
Innerchr16:4765922..5150981hg18UCSC Ensembl
Innerchr16:4765922..5150981hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38385060
hg19385060
hg18385060
hg17385060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422516
Supporting Variants
SamplesND01527
Known GenesALG1, C16orf89, FAM86A, GLYR1, NAGPA, NAGPA-AS1, PPL, ROGDI, SEC14L5, SEPT12, SMIM22, UBN1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161427
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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