A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029681



Internal ID10362145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85176068..85199291hg38UCSC Ensembl
Innerchr4:86097221..86120444hg19UCSC Ensembl
Innerchr4:86316245..86339468hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3823224
hg1923224
hg1823224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763823
Supporting Variants
SamplesSW_1027
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)essv7029681
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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