A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763843



Internal ID10377879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:92632143..92807596hg38UCSC Ensembl
Innerchr4:93553294..93728747hg19UCSC Ensembl
Innerchr4:93772317..93947770hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38175454
hg19175454
hg18175454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029765, essv7029764
SamplesSW_0029, SW_1039
Known GenesGRID2
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)esv2763843
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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