A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2764014



Internal ID10378050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:118277320..118395945hg38UCSC Ensembl
Innerchr7:117917374..118035999hg19UCSC Ensembl
Innerchr7:117704610..117823235hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg38118626
hg19118626
hg18118626
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991127, essv6991128, essv6991126
SamplesSW_0184, SW_1032, SW_0817
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)esv2764014
Frequency
Sample Size1109
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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