A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024140



Internal ID10342329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10858883..10863813hg38UCSC Ensembl
Innerchr17:10762200..10767130hg19UCSC Ensembl
Innerchr17:10702925..10707855hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg384931
hg194931
hg184931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760465
Supporting Variants
SamplesRW_0268
Known Genes
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)essv7024140
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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