A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7020805



Internal ID10003486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31116364..31254189hg38UCSC Ensembl
Innerchr12:31269298..31407123hg19UCSC Ensembl
Innerchr12:31160565..31298390hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38137826
hg19137826
hg18137826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2760232
Supporting Variants
SamplesRW_0632
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)essv7020805
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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