A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994612



Internal ID10357976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27304498..27413580hg38UCSC Ensembl
Innerchr10:27593427..27702509hg19UCSC Ensembl
Innerchr10:27633433..27742515hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38109083
hg19109083
hg18109083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764124
Supporting Variants
SamplesSW_0632
Known GenesPTCHD3
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)essv6994612
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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