A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760157



Internal ID10376465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122574497..122591497hg38UCSC Ensembl
Innerchr10:124334013..124351013hg19UCSC Ensembl
Innerchr10:124324003..124341003hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3817001
hg1917001
hg1817001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7018917, essv7018916, essv7018915
SamplesRW_0013, RW_0132, RW_0014
Known GenesDMBT1
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)esv2760157
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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