A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760243



Internal ID10376551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80431395..80435770hg38UCSC Ensembl
Innerchr12:80825175..80829550hg19UCSC Ensembl
Innerchr12:79349306..79353681hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg384376
hg194376
hg184376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021006, essv7021007
SamplesRW_0662, RW_0599
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)esv2760243
Frequency
Sample Size1109
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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