A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761325



Internal ID10374123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:48370042..48517786hg38UCSC Ensembl
Innerchr7:48409639..48557382hg19UCSC Ensembl
Innerchr7:48380185..48527928hg18UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38147745
hg19147744
hg18147744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990802
SamplesSW_1084
Known GenesABCA13
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)esv2761325
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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