A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761631



Internal ID10028984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:112575108..112583961hg38UCSC Ensembl
Innerchr10:114334867..114343720hg19UCSC Ensembl
Innerchr10:114324857..114333710hg18UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg388854
hg198854
hg188854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995229
SamplesSW_0017
Known GenesVTI1A
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)esv2761631
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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