A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763680



Internal ID10031030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:215682541..215697341hg38UCSC Ensembl
Innerchr1:215855883..215870683hg19UCSC Ensembl
Innerchr1:213922506..213937306hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3814801
hg1914801
hg1814801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005634, essv7005600, essv7005545, essv7005567, essv7005578, essv7005589, essv7005556, essv7005622, essv7005611
SamplesSW_1165, SW_1149, SW_1243, SW_1088, SW_0844, SW_0147, SW_0678, SW_0215, SW_0871
Known GenesUSH2A
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)esv2763680
Frequency
Sample Size1109
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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