A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761136



Internal ID10028498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2230260..2325309hg38UCSC Ensembl
Innerchr7:2269895..2364944hg19UCSC Ensembl
Innerchr7:2236421..2331470hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3895050
hg1995050
hg1895050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014410, essv7014409, essv7014408
SamplesRW_0613, RW_0180, RW_0593
Known GenesFTSJ2, MAD1L1, MIR6836, NUDT1, SNX8
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)esv2761136
Frequency
Sample Size1109
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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