A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761116



Internal ID10377423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19052849..19096684hg38UCSC Ensembl
Innerchr7:19092472..19136307hg19UCSC Ensembl
Innerchr7:19058997..19102832hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3843836
hg1943836
hg1843836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014516, essv7014518, essv7014515, essv7014517
SamplesRW_0536, RW_0544, RW_0666, RW_0162
Known Genes
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)esv2761116
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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