A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024197



Internal ID10341923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18555958hg38UCSC Ensembl
Innerchr17:18355392..18459272hg19UCSC Ensembl
Innerchr17:18296117..18399997hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38103881
hg19103881
hg18103881
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760449
Supporting Variants
SamplesRW_0257
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)essv7024197
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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