A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012990



Internal ID10018299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43229595..43340079hg38UCSC Ensembl
Innerchr2:43456734..43567218hg19UCSC Ensembl
Innerchr2:43310238..43420722hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38110485
hg19110485
hg18110485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763651
Supporting Variants
SamplesSW_1122
Known GenesTHADA
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)essv7012990
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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