A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030392



Internal ID10014938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:188515932..188516256hg38UCSC Ensembl
Innerchr4:189437086..189437410hg19UCSC Ensembl
Innerchr4:189674080..189674404hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763831
Supporting Variants
SamplesSW_1000
Known GenesLINC01060
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)essv7030392
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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