A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762678



Internal ID10375476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72356344..72393726hg38UCSC Ensembl
Innerchr7:71821329..71858711hg19UCSC Ensembl
Innerchr7:71459265..71496647hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3837383
hg1937383
hg1837383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv150e203
Supporting Variantsessv7014783
SamplesRW_0570
Known GenesCALN1
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)esv2762678
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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