A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026367



Internal ID10005326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:25788356..25867104hg38UCSC Ensembl
Innerchr3:25829847..25908595hg19UCSC Ensembl
Innerchr3:25804851..25883599hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3878749
hg1978749
hg1878749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763742
Supporting Variants
SamplesSW_0021
Known GenesLINC00692, NGLY1, OXSM
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)essv7026367
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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