A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021429



Internal ID10350174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:56393231..56447384hg38UCSC Ensembl
Innerchr13:56967365..57021518hg19UCSC Ensembl
Innerchr13:55865366..55919519hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3854154
hg1954154
hg1854154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760323
Supporting Variants
SamplesRW_0632
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)essv7021429
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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