A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760669



Internal ID10376976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:16584009..16606961hg38UCSC Ensembl
Innerchr20:16564654..16587606hg19UCSC Ensembl
Innerchr20:16512654..16535606hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3822953
hg1922953
hg1822953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7026253, essv7026256, essv7026249, essv7026248, essv7026251, essv7026254, essv7026250, essv7026247, essv7026257, essv7026246, essv7026252
SamplesRW_0330, RW_0357, RW_0017, RW_0269, RW_0272, RW_0648, RW_0204, RW_0085, RW_0068, RW_0021, RW_0361
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)esv2760669
Frequency
Sample Size1109
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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