A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7007950



Internal ID10348037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111036811..111040343hg38UCSC Ensembl
Innerchr2:111794388..111797920hg19UCSC Ensembl
Innerchr2:111510859..111514391hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383533
hg193533
hg183533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762272
Supporting Variants
SamplesRW_0582
Known GenesACOXL
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)essv7007950
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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