A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761649



Internal ID10028999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:119298022..119383313hg38UCSC Ensembl
Innerchr1:119840645..119925936hg19UCSC Ensembl
Innerchr1:119642168..119727459hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3885292
hg1985292
hg1885292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995567
SamplesSW_1384
Known GenesHAO2
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)esv2761649
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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