A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024292



Internal ID10342606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21399695..21620905hg38UCSC Ensembl
Innerchr17:21303007..21524172hg19UCSC Ensembl
Innerchr17:21243600..21464765hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38221211
hg19221166
hg18221166
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763159
Supporting Variants
SamplesRW_0274
Known GenesC17orf51, KCNJ12, KCNJ18
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)essv7024292
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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