A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762682



Internal ID10030032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82270476..82419984hg38UCSC Ensembl
Innerchr7:81899792..82049300hg19UCSC Ensembl
Innerchr7:81737728..81887236hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38149509
hg19149509
hg18149509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014837
SamplesRW_0196
Known GenesCACNA2D1
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)esv2762682
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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