A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760230



Internal ID10376538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:61008794..61066054hg38UCSC Ensembl
Innerchr12:61402575..61459835hg19UCSC Ensembl
Innerchr12:59688842..59746102hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3857261
hg1957261
hg1857261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020953, essv7020956, essv7020964, essv7020958, essv7020957, essv7020954, essv7020963, essv7020962, essv7020960, essv7020961, essv7020965, essv7020959
SamplesRW_0203, RW_0187, RW_0322, RW_0189, RW_0113, RW_0176, RW_0281, RW_0020, RW_0521, RW_0518, RW_0209, RW_0162
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)esv2760230
Frequency
Sample Size1109
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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