A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761383



Internal ID10028745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:150856669..150863234hg38UCSC Ensembl
Innerchr7:150553757..150560322hg19UCSC Ensembl
Innerchr7:150184690..150191255hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg386566
hg196566
hg186566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6991957
SamplesSW_1258
Known GenesAOC1
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)esv2761383
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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