A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764037



Internal ID10378073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:85785638..85875485hg38UCSC Ensembl
Innerchr7:85414954..85504801hg19UCSC Ensembl
Innerchr7:85252890..85342737hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3889848
hg1989848
hg1889848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990937, essv6990936
SamplesSW_1455, SW_1112
Known Genes
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)esv2764037
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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