A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7014706



Internal ID10333277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56740039..57016425hg38UCSC Ensembl
Innerchr7:56807732..57084132hg19UCSC Ensembl
Innerchr7:56775226..57088074hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38276387
hg19276401
hg18312849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2761073
Supporting Variants
SamplesRW_0042
Known GenesLOC100130849, MIR4283-1, MIR4283-2
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)essv7014706
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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