A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760877



Internal ID10028239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99589094..99614543hg38UCSC Ensembl
Innerchr12:99982872..100008321hg19UCSC Ensembl
Innerchr12:98507003..98532452hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3825450
hg1925450
hg1825450
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6997560, essv6997561, essv6997562, essv6997559
SamplesSW_1313, SW_1096, SW_1064, SW_0675
Known GenesANKS1B
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)esv2760877
Frequency
Sample Size1109
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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