A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763816



Internal ID10031166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:141056..438852hg38UCSC Ensembl
Innerchr4:134837..432641hg19UCSC Ensembl
Innerchr4:124837..422641hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38297797
hg19297805
hg18297805
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7028573, essv7028572, essv7028574
SamplesSW_0590, SW_0176, SW_1059
Known GenesABCA11P, ZNF141, ZNF718, ZNF732, ZNF876P
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)esv2763816
Frequency
Sample Size1109
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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