A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762577



Internal ID10029927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82244836..82838431hg38UCSC Ensembl
Innerchr17:80202712..80796307hg19UCSC Ensembl
Innerchr17:77796001..78389596hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38593596
hg19593596
hg18593596
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002673, essv7002674
SamplesSW_1425, SW_0175
Known GenesC17orf62, CD7, CSNK1D, FN3K, FN3KRP, FOXK2, HEXDC, NARF, OGFOD3, RAB40B, SECTM1, TBCD, TEX19, UTS2R, WDR45B, ZNF750
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)esv2762577
Frequency
Sample Size1109
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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