A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031494



Internal ID10008162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140844251..140852254hg38UCSC Ensembl
Innerchr5:140223836..140231839hg19UCSC Ensembl
Innerchr5:140204020..140212023hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388004
hg198004
hg188004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763898
Supporting Variants
SamplesSW_0191
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
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)essv7031494
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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