A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024817



Internal ID10345610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73749837..73751471hg38UCSC Ensembl
Innerchr17:71745976..71747610hg19UCSC Ensembl
Innerchr17:69257571..69259205hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381635
hg191635
hg181635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760453
Supporting Variants
SamplesRW_0515
Known GenesLINC00469, LOC100134391
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)essv7024817
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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