A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760605



Internal ID10376912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125480532..125723391hg38UCSC Ensembl
Innerchr2:126238109..126480968hg19UCSC Ensembl
Innerchr2:125954579..126197438hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38242860
hg19242860
hg18242860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008008, essv7008009, essv7008005, essv7008007, essv7008006
SamplesRW_0141, RW_0205, RW_0631, RW_0311, RW_0278
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)esv2760605
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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