A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761106



Internal ID10377413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71935838..71949300hg38UCSC Ensembl
Innerchr7:71400823..71414285hg19UCSC Ensembl
Innerchr7:71038759..71052221hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3813463
hg1913463
hg1813463
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014781, essv7014782
SamplesRW_0203, RW_0591
Known GenesCALN1
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)esv2761106
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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