A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762544



Internal ID10029894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4178680..4476552hg38UCSC Ensembl
Innerchr17:4081975..4379847hg19UCSC Ensembl
Innerchr17:4028724..4326596hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38297873
hg19297873
hg18297873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7001509, essv7001511
SamplesSW_1422, SW_1381
Known GenesANKFY1, SPNS3, UBE2G1
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)esv2762544
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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