A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764158



Internal ID10378194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122574497..122598210hg38UCSC Ensembl
Innerchr10:124334013..124357726hg19UCSC Ensembl
Innerchr10:124324003..124347716hg18UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3823714
hg1923714
hg1823714
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995239, essv6995244, essv6995243, essv6995242, essv6995240, essv6995241
SamplesSW_0158, SW_0817, SW_1171, SW_1435, SW_1068, SW_1175
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)esv2764158
Frequency
Sample Size1109
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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