A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024153



Internal ID10350953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18430601..18543365hg38UCSC Ensembl
Innerchr17:18333915..18446679hg19UCSC Ensembl
Innerchr17:18274640..18387404hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38112765
hg19112765
hg18112765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760449
Supporting Variants
SamplesRW_0656
Known GenesCCDC144B, FAM106A, KRT16P1, 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)essv7024153
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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