A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760811



Internal ID10028173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:135123783..135126001hg38UCSC Ensembl
Innerchr3:134842625..134844843hg19UCSC Ensembl
Innerchr3:136325315..136327533hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg382219
hg192219
hg182219
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7009465, essv7009463, essv7009462, essv7009464
SamplesRW_0123, RW_0152, RW_0263, RW_0065
Known GenesEPHB1
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)esv2760811
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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