A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7030898



Internal ID10351664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16834459..16840036hg38UCSC Ensembl
Innerchr5:16834568..16840145hg19UCSC Ensembl
Innerchr5:16887568..16893145hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg385578
hg195578
hg185578
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763439
Supporting Variants
SamplesSW_0007
Known GenesMYO10
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)essv7030898
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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