A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7001760



Internal ID10360669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18455632..18550123hg38UCSC Ensembl
Innerchr17:18358946..18453437hg19UCSC Ensembl
Innerchr17:18299671..18394162hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3894492
hg1994492
hg1894492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762610
Supporting Variants
SamplesSW_0841
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)essv7001760
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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