A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027779



Internal ID10026847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:45874186..46549401hg38UCSC Ensembl
Innerchr1:46339858..47015073hg19UCSC Ensembl
Innerchr1:46112445..46787660hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38675216
hg19675216
hg18675216
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761743
Supporting Variants
SamplesSW_1505
Known GenesDMBX1, FAAH, KNCN, LOC729041, LRRC41, LURAP1, MAST2, 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)essv7027779
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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