A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761569



Internal ID10028922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:7554525..7564722hg38UCSC Ensembl
Innerchr10:7596487..7606685hg19UCSC Ensembl
Innerchr10:7636493..7646691hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3810198
hg1910199
hg1810199
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6994405
SamplesSW_1551
Known GenesITIH5
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)esv2761569
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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