A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763805



Internal ID10377841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68378716..68478894hg38UCSC Ensembl
Innerchr4:69244434..69344612hg19UCSC Ensembl
Innerchr4:68927029..69027207hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38100179
hg19100179
hg18100179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029363, essv7029365, essv7029364, essv7029366
SamplesSW_0636, SW_1211, SW_1380, SW_1156
Known GenesTMPRSS11E
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)esv2763805
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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