A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001265



Internal ID10020725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75118928..75156810hg38UCSC Ensembl
Innerchr16:75152826..75190708hg19UCSC Ensembl
Innerchr16:73710327..73748209hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3837883
hg1937883
hg1837883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761914
Supporting Variants
SamplesSW_1221
Known GenesZFP1
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)essv7001265
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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