A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763351



Internal ID10030701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37252045..37310604hg38UCSC Ensembl
Innerchr4:37253667..37312226hg19UCSC Ensembl
Innerchr4:36930062..36988621hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3858560
hg1958560
hg1858560
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029227
SamplesSW_1276
Known GenesKIAA1239
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)esv2763351
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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