A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7008726



Internal ID9993212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237806187..237862106hg38UCSC Ensembl
Innerchr2:238714830..238770749hg19UCSC Ensembl
Innerchr2:238379569..238435488hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855920
hg1955920
hg1855920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760579
Supporting Variants
SamplesRW_0210
Known GenesRAMP1, RBM44
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)essv7008726
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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