A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014389



Internal ID10371618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52751056..52773627hg38UCSC Ensembl
Innerchr2:52978194..53000765hg19UCSC Ensembl
Innerchr2:52831698..52854269hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3822572
hg1922572
hg1822572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763631
Supporting Variants
SamplesSW_1412
Known Genes
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)essv7014389
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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