A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7029364



Internal ID10367187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68416487..68422424hg38UCSC Ensembl
Innerchr4:69282205..69288142hg19UCSC Ensembl
Innerchr4:68964800..68970737hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg385938
hg195938
hg185938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763805
Supporting Variants
SamplesSW_1211
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)essv7029364
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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