A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761382



Internal ID10374180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149592373..149615066hg38UCSC Ensembl
Innerchr7:149289464..149312157hg19UCSC Ensembl
Innerchr7:148920397..148943090hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3822694
hg1922694
hg1822694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991955
SamplesSW_1064
Known GenesZNF767
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)esv2761382
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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