A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762539



Internal ID10029889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44357175..44447311hg38UCSC Ensembl
Innerchr2:44584314..44674450hg19UCSC Ensembl
Innerchr2:44437818..44527954hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3890137
hg1990137
hg1890137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013023
SamplesSW_0340
Known GenesCAMKMT, PREPL
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)esv2762539
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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