A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761743



Internal ID10029093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45874186..46561071hg38UCSC Ensembl
Innerchr1:46339858..47026743hg19UCSC Ensembl
Innerchr1:46112445..46799330hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38686886
hg19686886
hg18686886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7027790, essv7027779
SamplesSW_1193, SW_1505
Known GenesDMBX1, FAAH, KNCN, LOC729041, LRRC41, LURAP1, MAST2, MKNK1, MKNK1-AS1, NSUN4, PIK3R3, POMGNT1, RAD54L, TSPAN1, UQCRH
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)esv2761743
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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