A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002329



Internal ID10015973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46710828hg38UCSC Ensembl
Innerchr17:44208674..44788194hg19UCSC Ensembl
Innerchr17:41564451..42143377hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38579521
hg19579521
hg18578927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762433
Supporting Variants
SamplesSW_1046
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)essv7002329
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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