A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012715



Internal ID9984940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22419490..24131170hg38UCSC Ensembl
Innerchr5:22419599..24131279hg19UCSC Ensembl
Innerchr5:22455356..24167036hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381711681
hg191711681
hg181711681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762506
Supporting Variants
SamplesRW_0004
Known GenesCDH12, PRDM9
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)essv7012715
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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