A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762747



Internal ID10030097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101653891..101851519hg38UCSC Ensembl
Innerchr2:102270353..102467981hg19UCSC Ensembl
Innerchr2:101636785..101834413hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38197629
hg19197629
hg18197629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016856
SamplesSW_0200
Known GenesMAP4K4
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)esv2762747
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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