A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761076



Internal ID10377383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203935975..203953367hg38UCSC Ensembl
Innerchr1:203905103..203922495hg19UCSC Ensembl
Innerchr1:202171726..202189118hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3817393
hg1917393
hg1817393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7005234, essv7005223, essv7005212, essv7005166, essv7005177, essv7005190, essv7005245, essv7005201, essv7005256
SamplesSW_0072, SW_1054, SW_0099, SW_1448, SW_0605, SW_1428, SW_1472, SW_0791, SW_0144
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)esv2761076
Frequency
Sample Size1109
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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