A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6997925



Internal ID10371704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:39512188..39525958hg38UCSC Ensembl
Innerchr13:40086325..40100095hg19UCSC Ensembl
Innerchr13:38984325..38998095hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3813771
hg1913771
hg1813771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761784
Supporting Variants
SamplesSW_1414
Known GenesLHFP
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)essv6997925
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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