A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6998619



Internal ID10366196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61593213..61595886hg38UCSC Ensembl
Innerchr14:62059931..62062604hg19UCSC Ensembl
Innerchr14:61129684..61132357hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382674
hg192674
hg182674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761838
Supporting Variants
SamplesSW_1171
Known GenesFLJ22447
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)essv6998619
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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