A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001263



Internal ID10026599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74346075..74422703hg38UCSC Ensembl
Innerchr16:74379973..74456601hg19UCSC Ensembl
Innerchr16:72937474..73014102hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3876629
hg1976629
hg1876629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762054
Supporting Variants
SamplesSW_1480
Known GenesCLEC18B, LOC283922
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)essv7001263
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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