A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7018870



Internal ID9994086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:120592928..120710371hg38UCSC Ensembl
Innerchr10:122352440..122469883hg19UCSC Ensembl
Innerchr10:122342430..122459873hg18UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg38117444
hg19117444
hg18117444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760128
Supporting Variants
SamplesRW_0228
Known GenesC10orf85, MIR5694
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)essv7018870
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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