A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7023566



Internal ID10351930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241973315..242092535hg38UCSC Ensembl
Innerchr2:242915466..243034686hg19UCSC Ensembl
Innerchr2:242564139..242683359hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38119221
hg19119221
hg18119221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763646
Supporting Variants
SamplesSW_0019
Known GenesLOC728323
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)essv7023566
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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