A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002659



Internal ID10017140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73835799..74684915hg38UCSC Ensembl
Innerchr17:71831938..72681054hg19UCSC Ensembl
Innerchr17:69343533..70192649hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38849117
hg19849117
hg18849117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761978
Supporting Variants
SamplesSW_1085
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
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)essv7002659
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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