A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7031310



Internal ID10352831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100245407..100437656hg38UCSC Ensembl
Innerchr5:99581111..99773360hg19UCSC Ensembl
Innerchr5:99609010..99801259hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38192250
hg19192250
hg18192250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763875
Supporting Variants
SamplesSW_0071
Known GenesLOC100133050
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)essv7031310
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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