A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762307



Internal ID10029657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233595877..233653333hg38UCSC Ensembl
Innerchr2:234504523..234561979hg19UCSC Ensembl
Innerchr2:234169262..234226718hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3857457
hg1957457
hg1857457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7008692
SamplesRW_0653
Known GenesUGT1A10, UGT1A8
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)esv2762307
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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