A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6994613



Internal ID10357242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:27304498..27417672hg38UCSC Ensembl
Innerchr10:27593427..27706601hg19UCSC Ensembl
Innerchr10:27633433..27746607hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38113175
hg19113175
hg18113175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2764124
Supporting Variants
SamplesSW_0590
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)essv6994613
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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