A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001662



Internal ID10373501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18561907hg38UCSC Ensembl
Innerchr17:18355392..18465221hg19UCSC Ensembl
Innerchr17:18296117..18405946hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38109830
hg19109830
hg18109830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762610
Supporting Variants
SamplesSW_1504
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
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)essv7001662
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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