A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030387



Internal ID10005871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187596435..189167013hg38UCSC Ensembl
Innerchr4:188517589..190088167hg19UCSC Ensembl
Innerchr4:188754583..190325161hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381570579
hg191570579
hg181570579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763831
Supporting Variants
SamplesSW_0057
Known GenesLINC01060, TRIML1, TRIML2, ZFP42
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)essv7030387
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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