A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762328



Internal ID10029678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52740868..52968134hg38UCSC Ensembl
Innerchr3:52774884..53002150hg19UCSC Ensembl
Innerchr3:52749924..52977190hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38227267
hg19227267
hg18227267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009050
SamplesRW_0528
Known GenesITIH1, ITIH3, ITIH4, MIR8064, MUSTN1, NEK4, SFMBT1, TMEM110, TMEM110-MUSTN1
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)esv2762328
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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