A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763626



Internal ID10030976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232339649..232447741hg38UCSC Ensembl
Innerchr2:233204359..233312451hg19UCSC Ensembl
Innerchr2:232912603..233020695hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38108093
hg19108093
hg18108093
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7023466, essv7023477, essv7023488
SamplesSW_0837, SW_1006, SW_0148
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)esv2763626
Frequency
Sample Size1109
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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