A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7024133



Internal ID10340875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6203166..6232483hg38UCSC Ensembl
Innerchr17:6106486..6135803hg19UCSC Ensembl
Innerchr17:6047210..6076527hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3829318
hg1929318
hg1829318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760462
Supporting Variants
SamplesRW_0230
Known Genes
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)essv7024133
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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