A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760616



Internal ID10027978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61136348..61200572hg38UCSC Ensembl
Innerchr2:61363483..61427707hg19UCSC Ensembl
Innerchr2:61216987..61281211hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3864225
hg1964225
hg1864225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7007666, essv7007668
SamplesRW_0293, RW_0190
Known GenesAHSA2, C2orf74, KIAA1841, LOC339803, USP34
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)esv2760616
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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