A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761940



Internal ID10029290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3767589..3997617hg38UCSC Ensembl
Innerchr17:3670883..3900911hg19UCSC Ensembl
Innerchr17:3617632..3847660hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38230029
hg19230029
hg18230029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001508
SamplesSW_1026
Known GenesATP2A3, C17orf85, CAMKK1, ITGAE, P2RX1
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)esv2761940
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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