A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762977



Internal ID10030327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:6890139..7108052hg38UCSC Ensembl
Innerchr19:6890150..7108063hg19UCSC Ensembl
Innerchr19:6841150..7059063hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38217914
hg19217914
hg18217914
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7003184, essv7003181, essv7003183, essv7003182, essv7003180
SamplesSW_0837, SW_0173, SW_0814, SW_0017, SW_0200
Known GenesEMR1, EMR4P, FLJ25758, MBD3L2, MBD3L3, MBD3L4, MBD3L5, ZNF557
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)esv2762977
Frequency
Sample Size1109
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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