A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7011225



Internal ID10003334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70108253..70119484hg38UCSC Ensembl
Innerchr4:70973970..70985201hg19UCSC Ensembl
Innerchr4:71008559..71019790hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3811232
hg1911232
hg1811232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760880
Supporting Variants
SamplesRW_0629
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)essv7011225
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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