A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014772



Internal ID10002589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66630751..66671562hg38UCSC Ensembl
Innerchr7:66095738..66136549hg19UCSC Ensembl
Innerchr7:65733173..65773984hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3840812
hg1940812
hg1840812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761151
Supporting Variants
SamplesRW_0611
Known GenesKCTD7
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)essv7014772
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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