A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762957



Internal ID10030307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:518253..574780hg38UCSC Ensembl
Innerchr12:627419..683946hg19UCSC Ensembl
Innerchr12:497680..554207hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3856528
hg1956528
hg1856528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020324
SamplesRW_0167
Known GenesB4GALNT3, NINJ2
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)esv2762957
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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