A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763802



Internal ID10031152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108168646..108443575hg38UCSC Ensembl
Innerchr1:108711268..108986197hg19UCSC Ensembl
Innerchr1:108512791..108787720hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38274930
hg19274930
hg18274930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6992645, essv6992634, essv6992611, essv6992656, essv6992622
SamplesSW_1334, SW_1539, SW_1031, SW_1302, SW_0789
Known GenesNBPF4, SLC25A24
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)esv2763802
Frequency
Sample Size1109
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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