A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762340



Internal ID10375138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:97492790..97498726hg38UCSC Ensembl
Innerchr3:97211634..97217570hg19UCSC Ensembl
Innerchr3:98694324..98700260hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg385937
hg195937
hg185937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009256
SamplesRW_0041
Known GenesEPHA6
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)esv2762340
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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