A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998474



Internal ID10353046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27550028..28231813hg38UCSC Ensembl
Innerchr14:28019234..28701019hg19UCSC Ensembl
Innerchr14:27089074..27770770hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38681786
hg19681786
hg18681697
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761825
Supporting Variants
SamplesSW_0086
Known GenesLINC00645
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)essv6998474
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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