A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018262



Internal ID9988496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28275263..28281670hg38UCSC Ensembl
Innerchr10:28564192..28570599hg19UCSC Ensembl
Innerchr10:28604198..28610605hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg386408
hg196408
hg186408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760125
Supporting Variants
SamplesRW_0096
Known GenesMPP7
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)essv7018262
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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