A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029289



Internal ID10351912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62804218..62805944hg38UCSC Ensembl
Innerchr4:63669936..63671662hg19UCSC Ensembl
Innerchr4:63352531..63354257hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381727
hg191727
hg181727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763857
Supporting Variants
SamplesSW_0019
Known Genes
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)essv7029289
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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