A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7000587



Internal ID10016080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18540265..18737254hg38UCSC Ensembl
Innerchr16:18551587..18748576hg19UCSC Ensembl
Innerchr16:18459088..18656077hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38196990
hg19196990
hg18196990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762176
Supporting Variants
SamplesSW_1051
Known GenesABCC6P1, NOMO2
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)essv7000587
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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