A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007684



Internal ID10341769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68153052..68154720hg38UCSC Ensembl
Innerchr2:68380184..68381852hg19UCSC Ensembl
Innerchr2:68233688..68235356hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381669
hg191669
hg181669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762262
Supporting Variants
SamplesRW_0254
Known GenesWDR92
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)essv7007684
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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