A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7021987



Internal ID10351401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20877548..20952929hg38UCSC Ensembl
Innerchr14:21345707..21421088hg19UCSC Ensembl
Innerchr14:20415547..20490928hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3875382
hg1975382
hg1875382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760325
Supporting Variants
SamplesRW_0669
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)essv7021987
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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