A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761338



Internal ID10028700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74840595..74953065hg38UCSC Ensembl
Innerchr7:74256920..74367951hg19UCSC Ensembl
Innerchr7:73894856..74005887hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38112471
hg19111032
hg18111032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6990893
SamplesSW_1373
Known GenesGTF2IRD2, PMS2P5, STAG3L2
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)esv2761338
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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