A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7012943



Internal ID10362706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41285362..41342865hg38UCSC Ensembl
Innerchr2:41512502..41570005hg19UCSC Ensembl
Innerchr2:41366006..41423509hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3857504
hg1957504
hg1857504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2762534
Supporting Variants
SamplesSW_1047
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)essv7012943
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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