A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002674



Internal ID10025290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82578039..82578936hg38UCSC Ensembl
Innerchr17:80535915..80536812hg19UCSC Ensembl
Innerchr17:78129204..78130101hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38898
hg19898
hg18898
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762577
Supporting Variants
SamplesSW_1425
Known GenesFOXK2
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)essv7002674
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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