A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7022197



Internal ID10001870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47762764..47808248hg38UCSC Ensembl
Innerchr14:48231967..48277451hg19UCSC Ensembl
Innerchr14:47301717..47347201hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3845485
hg1945485
hg1845485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760357
Supporting Variants
SamplesRW_0594
Known GenesLINC00648
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)essv7022197
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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