A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7026496



Internal ID10336751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:23057226..23061865hg38UCSC Ensembl
Innerchr21:24429548..24434187hg19UCSC Ensembl
Innerchr21:23351419..23356058hg18UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg384640
hg194640
hg184640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760686
Supporting Variants
SamplesRW_0137
Known Genes
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)essv7026496
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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