A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024219



Internal ID10335899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452078..18571332hg38UCSC Ensembl
Innerchr17:18355392..18474646hg19UCSC Ensembl
Innerchr17:18296117..18415371hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38119255
hg19119255
hg18119255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760449
Supporting Variants
SamplesRW_0115
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)essv7024219
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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