A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761995



Internal ID10029345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26634322..26922606hg38UCSC Ensembl
Innerchr18:24214286..24502570hg19UCSC Ensembl
Innerchr18:22468284..22756568hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38288285
hg19288285
hg18288285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7002706
SamplesSW_1080
Known GenesAQP4, AQP4-AS1, CHST9, KCTD1, LOC728606
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)esv2761995
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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