A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763831



Internal ID10031181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:187562041..189231692hg38UCSC Ensembl
Innerchr4:188483195..190152846hg19UCSC Ensembl
Innerchr4:188720189..190389840hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg381669652
hg191669652
hg181669652
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030391, essv7030396, essv7030389, essv7030393, essv7030386, essv7030395, essv7030392, essv7030388, essv7030387, essv7030394
SamplesSW_1000, SW_0057, SW_1457, SW_1348, SW_0875, SW_0650, SW_1468, SW_0663, SW_1450
Known GenesLINC01060, TRIML1, TRIML2, ZFP42
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)esv2763831
Frequency
Sample Size1109
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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