A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7010955



Internal ID10024771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31298227..31387445hg38UCSC Ensembl
Innerchr2:31521093..31610311hg19UCSC Ensembl
Innerchr2:31374597..31463815hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3889219
hg1989219
hg1889219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762446
Supporting Variants
SamplesSW_1405
Known GenesXDH
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)essv7010955
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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