A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762660



Internal ID10375458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:28985794..28993192hg38UCSC Ensembl
Innerchr7:29025410..29032808hg19UCSC Ensembl
Innerchr7:28991935..28999333hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg387399
hg197399
hg187399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7014559
SamplesRW_0201
Known GenesLOC100506497
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)esv2762660
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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