A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761840



Internal ID10029190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66518535..66574917hg38UCSC Ensembl
Innerchr14:66985253..67041635hg19UCSC Ensembl
Innerchr14:66055006..66111388hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3856383
hg1956383
hg1856383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6998626
SamplesSW_1303
Known GenesGPHN
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)esv2761840
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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