A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001262



Internal ID10025542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74346075..74373481hg38UCSC Ensembl
Innerchr16:74379973..74407379hg19UCSC Ensembl
Innerchr16:72937474..72964880hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3827407
hg1927407
hg1827407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762054
Supporting Variants
SamplesSW_1436
Known GenesLOC283922
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)essv7001262
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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