A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021995



Internal ID10336946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20881449..20934437hg38UCSC Ensembl
Innerchr14:21349608..21402596hg19UCSC Ensembl
Innerchr14:20419448..20472436hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3852989
hg1952989
hg1852989
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760325
Supporting Variants
SamplesRW_0141
Known GenesECRP, RNASE3
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)essv7021995
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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