A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027703



Internal ID10365357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:125724765..125801310hg38UCSC Ensembl
Innerchr3:125443608..125520153hg19UCSC Ensembl
Innerchr3:126926298..127002843hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3876546
hg1976546
hg1876546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763753
Supporting Variants
SamplesSW_1134
Known GenesMIR548I1
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)essv7027703
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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