A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7027830



Internal ID10368466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130044855..130100795hg38UCSC Ensembl
Innerchr3:129763698..129819638hg19UCSC Ensembl
Innerchr3:131246388..131302328hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3855941
hg1955941
hg1855941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2763722
Supporting Variants
SamplesSW_1269
Known GenesALG1L2, FAM86HP
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)essv7027830
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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