A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763501



Internal ID10376181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141190118..141191622hg38UCSC Ensembl
Innerchr5:140569691..140571195hg19UCSC Ensembl
Innerchr5:140549875..140551379hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381505
hg191505
hg181505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7031518
SamplesSW_0185
Known GenesPCDHB9
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)esv2763501
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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