A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021652



Internal ID10331447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60635461..60650508hg38UCSC Ensembl
Innerchr13:61209595..61224642hg19UCSC Ensembl
Innerchr13:60107596..60122643hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3815048
hg1915048
hg1815048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760294
Supporting Variants
SamplesRW_0001
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)essv7021652
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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