A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024639



Internal ID9991912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46276519hg38UCSC Ensembl
Innerchr17:44213204..44353885hg19UCSC Ensembl
Innerchr17:41568981..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38140682
hg19140682
hg18140682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760451
Supporting Variants
SamplesRW_0183
Known GenesKANSL1, KANSL1-AS1, LOC644172
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)essv7024639
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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