A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763808



Internal ID10031158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:71140729..71194502hg38UCSC Ensembl
Innerchr4:72006446..72060219hg19UCSC Ensembl
Innerchr4:72225310..72279083hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3853774
hg1953774
hg1853774
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7029670, essv7029669
SamplesSW_0077, SW_1301
Known GenesSLC4A4
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)esv2763808
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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