A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014462



Internal ID10004359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:8510646..8533927hg38UCSC Ensembl
Innerchr7:8550276..8573557hg19UCSC Ensembl
Innerchr7:8516801..8540082hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3823282
hg1923282
hg1823282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761144
Supporting Variants
SamplesRW_0659
Known GenesNXPH1
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)essv7014462
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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