A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763168



Internal ID10375848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41231308..41239604hg38UCSC Ensembl
Innerchr17:39387560..39395856hg19UCSC Ensembl
Innerchr17:36641086..36649382hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388297
hg198297
hg188297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7024398
SamplesRW_0031
Known GenesKRTAP9-3, KRTAP9-8
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)esv2763168
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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