A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763693



Internal ID10031043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20581182..21111546hg38UCSC Ensembl
Innerchr22:20935469..21465835hg19UCSC Ensembl
Innerchr22:19265469..19795835hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38530365
hg19530367
hg18530367
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7004531, essv7004532
SamplesSW_1523, SW_0101
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, POM121L4P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
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)esv2763693
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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