A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7002171



Internal ID10008143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45568527..45589540hg38UCSC Ensembl
Innerchr17:43645893..43666906hg19UCSC Ensembl
Innerchr17:41001676..41022689hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3821014
hg1921014
hg1821014
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762433
Supporting Variants
SamplesSW_0191
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)essv7002171
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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