A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763771



Internal ID10031121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151790048..151837943hg38UCSC Ensembl
Innerchr3:151507836..151555731hg19UCSC Ensembl
Innerchr3:152990526..153038421hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3847896
hg1947896
hg1847896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027943, essv7027936, essv7027947, essv7027938, essv7027929, essv7027945, essv7027941, essv7027934, essv7027944, essv7027937, essv7027940, essv7027926, essv7027928, essv7027927, essv7027930, essv7027939, essv7027932, essv7027931, essv7027942, essv7027933
SamplesSW_0089, SW_0239, SW_0059, SW_0628, SW_1212, SW_1508, SW_1104, SW_1450, SW_1032, SW_0873, SW_1395, SW_1306, SW_1108, SW_1039, SW_1351, SW_1325, SW_1072, SW_0240, SW_0762, SW_1174
Known GenesAADAC, MIR548H2
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)esv2763771
Frequency
Sample Size1109
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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